Homo sapiens mrna for rpgr protein, retina specific isoform



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Homo sapiens RPGR protein.

Genbank: AJ238395, U57629, AF286471S1, AF286471S2

According to: [1],[2]
Alternative splicing is an important feature of RPGR. The currently known transcripts are given according to Kirschner et al. [3] and Vervoort et al.[4]

Nucleotide numbering is given in blue for the retina specific transcript and further in cyan for the complete gene, and starts with the first codon since RPGR exon 1 is a coding exon

Amino acid numbering is given in green

Mutations are indicated above the sequence with polymorphisms in black, RP3 mutations in red, COD1 mutations in violett

The major splice forms in the retina are either terminated by exon 15a or ORF15. A complete splice form with all 19 exons is present in the retina but is considered to have no function in the pathogeneity of RP. Minor splice forms in the retina include exons 15b1, 15b2 or ORF14, therefore these splice forms are not given here.

A testis specific spliceform is missing exons 14 and 15.

Primers are indicated by arrows |--> and the sources are given according to the list of references at the end of the sequence.
N: Nucleotide binding motifs

I: Isoprenylation motif


-140 -130 -120 -110 -100 -90 -80 -70

gatct ccgga gtttc gccat gcgga acttg ggggc tttcg cggcc cgcgt cggtg cggag tagct gcttt agccc

ctaga ggcct caaag cggta cgcct tgaac ccccg aaagc gccgg gcgca gccac gcctc atcga cgaaa tcggg

-60 -50 -40 -30 -20 -10 1

|--------------------> 1f (1)

cgacc aacca aaccg tcctc tacag cctcc tggcc ccggc gcagg ctgcc cgtac tgccc gtggc ATG AGG GAG

gctgg ttggt ttggc aggag atgtc ggagg accgg ggccg cgtcc gacgg gcatg acggg caccg TAC TCC CTC

Met Arg Glu

M R E

1

a (13,16)



| a (9)

15 28 | |

CCG GAA GAG CTG ATG CCC G gtgag ttgcg cccgc gccgg tggcg gaagg ccggg aggga gggtc cgcgg

GGC CTT CTC GAC TAC GGG C cactc aacgc gggcg cggcc accgc cttcc ggccc tccct cccag gcgcc

Pro Glu Glu Leu Met Pro Asp

P E E L M P D

5 10

gcggc cgggc cccgc ctccg gatcg gccct gtagg gggac aggcc ccagg cttgg cagcc ggact ggggc

cgccg gcccg gggcg gaggc ctagc cggga catcc ccctg tccgg ggtcc gaacc gtcgg cctga ccccg

<-------------------| 1r (1)
IVS1
g (13,10)

|----------------------------> 2f (1) |

tggat aaatt actca aaagt tattt taata acagg caaca tagta aaagt tataa aataa agacc atctt atatt

accta tttaa tgagt tttca ataaa attat tgtcc gttgt atcat tttca atatt ttatt tctgg tagaa tataa

29 45 60 75 90

tgcag AT TCG GGT GCT GTG TTT ACA TTT GGG AAA AGT AAA TTT GCT GAA AAT AAT CCC GGT AAA TTC

acgtc TA AGC CCA CGA CAC AAA TGT AAA CCC TTT TCA TTT AAA CGA CTT TTA TTA GGG CCA TTT AAG

Asp Ser Gly Ala Val Phe Thr Phe Gly Lys Ser Lys Phe Ala Glu Asn Asn Pro Gly Lys Phe

D S G A V F T F G K S K F A E N N P G K F

NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNN

10 15 20 25 30

A=Arg (13,16) G=Ser (22)

Del(13)T=Phe (21) |A=Glu (13,16) | -MspI(1) ter=T

| 105 | 120 || 135 | 150 154|

TGG TTT AAA AAT GAT GTC CCT GTA CAT CTT TCA TGT GGA GAT GAA CAT TCT GCT GTT GTT ACC G

ACC AAA TTT TTA CTA CAG GGA CAT GTA GAA AGT ACA CCT CTA CTT GTA AGA CGA CAA CAA TGG C

Trp Phe Lys Asn Asp Val Pro Val His Leu Ser Cys Gly Asp Glu His Ser Ala Val Val Thr Gly

W F K N D V P V H L S C G D E H S A V V T G

NNNNNNNNNNNNNNNNNNN

35 40 45 50 52

gttag tatta caatc ctgaa taagg acagt aatac ttaga aaatt ctaaa tattt tgtta tagat atgct gctgt

caatc ataat gttag gactt attcc tgtca ttatg aatct tttaa gattt ataaa acaat atcta tacga cgaca



<-------------------------| 2r (1)

gtttt aaaca tgttg

caaaa tttgt acaac
IVS2
|------------------------> 3f (1)

atttc aacac agaaa agcag tgaca tttta aaagt atagc ttttt attgc tttgt ggtga cctca tctta catta

taaag ttgtg tcttt tcgtc actgt aaaat tttca tatcg aaaaa taacg aaaca ccact ggagt agaat gtaat

g (18,22) (10,16,13) Val=T

|155 165 |

tgtga aaaat gcttc aattg attat ttctt tttcc ctcct accag GA AAT AAT AAA CTT TAC ATG TTT GGC

acact tttta cgaag ttaac taata aagaa aaagg gagga tggtc CT TTA TTA TTT GAA ATG TAC AAA CCG

Gly Asn Asn Lys Leu Tyr Met Phe Gly

G N N K L Y M F G

52 55 60


del (11,12)

195 210 225 |-| 247

AGT AAC AAC TGG GGT CAG TTA GGA TTA GGA TCA AAG TCA GCC ATC AGC AAG CCA ACA TGT GTC AAA G

TCA TTG TTG ACC CCA GTC AAT CCT AAT CCT AGT TTC AGT CGG TAG TCG TTC GGT TGT ACA CAG TTT C

Ser Asn Asn Trp Gly Gln Leu Gly Leu Gly Ser Lys Ser Ala Ile Ser Lys Pro Thr Cys Val Lys Ala

S N N W G Q L G L G S K S A I S K P T C V K A

65 70 75 80 83

gtttg ggatc ttttt atctt ttcac aaact gtata aagta ttttt atgtt gactg tgtag ttctt taatg tcata

caaac cctag aaaaa tagaa aagtg tttga catat ttcat aaaaa tacaa ctgac acatc aagaa attac agtat

3r (1) <------------------------|

aataa taaa

ttatt attt


IVS3
4f (1) |------------------------>

acttt ggaat cagac aagcc cgcta ttaaa tctcg gttct atcac ttagt tacca tttgt cctgg actac tgttc

tgaaa cctta gtctg ttcgg gcgat aattt agagc caaga tagtg aatca atggt aaaca ggacc tgatg acaag

a (13)


| 248 255 270

atttt cattg ctata aaata attgt cccat tttaa atatt tttag CT CTA AAA CCT GAA AAA GTG AAA TTA

taaaa gtaac gatat tttat taaca gggta aaatt tataa aaatc GA GAT TTT GGA CTT TTT CAC TTT AAT

Ala Leu Lys Pro Glu Lys Val Lys Leu


A L K P E K V K L

83 85 90

A=Gln (1)

| insCA (8) c (13)

285 | | 300 310 |

GCT GCC TGT GGA AGG AAC CAC ACC CTG GTG TCA ACA G gtata gtgct caacc tgtat gattt cctgc

CGA CGG ACA CCT TCC TTG GTG TGG GAC CAC AGT TGT C catat cacga gttgg acata ctaaa ggacg

Ala Ala Cys Gly Arg Asn His Thr Leu Val Ser Thr Glu

A A C G R N H T L V S T E

95 100 104

ctgac tttga gaact gaggt ctcat tccag taacg tggct ttgta aaatt aatag agatt atact ttggc aacag

gactg aaact cttga ctcca gagta aggtc attgc accga aacat tttaa ttatc tctaa tatga aaccg ttgtc

<-----------------------| 4r (1)
IVS4
|------------------------> 5f (1) 311 315

gacct gtctc ataaa aaggg ggact ctata gtcta ttgac gtttt ctttt ccatg tgcag AA GGA GGC AAT

ctgga cagag tattt ttccc cctga gatat cagat aactg caaaa gaaaa ggtac acgtc TT CCT CCG TTA

Glu Gly Gly Asn
E G G N

104 105

del (13,16) del (10) G=Gly (13,16)

330 345 | 360 | 375 |

GTA TAT GCA ACT GGT GGA AAT AAT GAA GGA CAG TTG GGG CTT GGT GAC ACC GAA GAA AGA AAC ACT

CAT ATA CGT TGA CCA CCT TTA TTA CTT CCT GTC AAC CCC GAA CCA CTG TGG CTT CTT TCT TTG TGA

Val Tyr Ala Thr Gly Gly Asn Asn Glu Gly Gln Leu Gly Leu Gly Asp Thr Glu Glu Arg Asn Thr

V Y A T G G N N E G Q L G L G D T E E R N T

110 115 120 125

G=Cys (2) T=ter (5)

| 405 | 420 435 450

TTT CAT GTA ATT AGC TTT TTT ACA TCC GAG CAT AAG ATT AAG CAG CTG TCT GCT GGA TCT AAT ACT

AAA GTA CAT TAA TCG AAA AAA TGT AGG CTC GTA TTC TAA TTC GTC GAC AGA CGA CCT AGA TTA TGA

Phe His Val Ile Ser Phe Phe Thr Ser Glu His Lys Ile Lys Gln Leu Ser Ala Gly Ser Asn Thr

F H V I S F F T S E H K I K Q L S A G S N T

130 135 140 145 150

t (11)


465 469 |

TCA GCT GCC CTA ACT G gtgag acttg tttct ttttc agtct gggac acatt ccttt cctgt agatc aatat

AGT CGA CGG GAT TGA C cactc tgaac aaaga aaaag tcaga ccctg tgtaa ggaaa ggaca tctag ttata

Ser Ala Ala Leu Thr Glu <-------------------| 5r (1)


S A A L T E

155 157

atgcc aattc agtaa accga aggga

tacgg ttaag tcatt tggct tccct

IVS5
|-------------------> 6f (1)

atggt ctttt ggaag tataa tagct tcaga gcctg gctac ctttt aaaac ctttt ctccc ccttt tattt ttctt

tacca gaaaa ccttc atatt atcga agtct cggac cgatg gaaaa ttttg gaaaa gaggg ggaaa ataaa aagaa

del (12,15,16)

|del (13) A=ter (10) del (5,15)

470 480 || | 495 510 | 525

tatag AG GAT GGA AGA CTT TTT ATG TGG GGT GAC AAT TCC GAA GGG CAA ATT GGT TTA AAA AAT GTA

atatc TC CTA CCT TCT GAA AAA TAC ACC CCA CTG TTA AGG CTT CCC GTT TAA CCA AAT TTT TTA CAT

Glu Asp Gly Arg Leu Phe Met Trp Gly Asp Asn Ser Glu Gly Gln Ile Gly Leu Lys Asn Val

E D G R L F M W G D N S E G Q I G L K N V

157 160 165 170 175

A=ter (1) +BglIII

540 555 570 | 585

AGT AAT GTC TGT GTC CCT CAG CAA GTG ACC ATT GGG AAA CCT GTC TCC TGG ATC TCT TGT GGA TAT

TCA TTA CAG ACA CAG GGA GTC GTT CAC TGG TAA CCC TTT GGA CAG AGG ACC TAG AGA ACA CCT ATA

Ser Asn Val Cys Val Pro Gln Gln Val Thr Ile Gly Lys Pro Val Ser Trp Ile Ser Cys Gly Tyr

S N V C V P Q Q V T I G K P V S W I S C G Y

180 185 190 195

A=ter (13,16) a (9)

600 | 615 619 |

TAC CAT TCA GCT TTT GTA ACA A gtaag acaca ttttg aagtc atcat gttat ctccc acttc tatgt tgtta

ATG GTA AGT CGA AAA CAT TGT T cattc tgtgt aaaac ttcag tagta caata gaggg tgaag ataca acaat

Tyr His Ser Ala Phe Val Thr Thr 6r (1) <-------------------------|

Y H S A F V T T

200 205 207

ttaaa ttaata

aattt aattat


IVS6
C (13)

|-------------------------> 7f (1) |

gaaag gtcaa atgta ttaag tgatc cttgt caaaa ctttt ttttg acggt aagac cagct ttttg ttcat atgta

ctttc cagtt tacat aattc actag gaaca gtttt gaaaa aaaac tgcca ttctg gtcga aaaac aagta tacat

T=Val (1)

620 630 |

tgtca tcact aatca ctata ctttt ccttc aatag CA GAT GGT GAG CTA TAT GTG TTT GGA GAA CCT GAG

acagt agtga ttagt gatat gaaaa ggaag ttatc GT CTA CCA CTC GAT ATA CAC AAA CCT CTT GGA CTC

Thr Asp Gly Glu Leu Tyr Val Phe Gly Glu Pro Glu

T D G E L Y V F G E P E

207 210 215

T=Ser (2)

| T=ter (10)

660 675 690 | | 720

AAT GGG AAG TTA GGT CTT CCC AAT CAG CTC CTG GGC AAT CAC AGA ACA CCC CAG CTG GTG TCT GAA

TTA CCC TTC AAT CCA GAA GGG TTA GTC GAG GAC CCG TTA GTG TCT TGT GGG GTC GAC CAC AGA CTT

Asn Gly Lys Leu Gly Leu Pro Asn Gln Leu Leu Gly Asn His Arg Thr Pro Gln Leu Val Ser Glu

N G K L G L P N Q L L G N H R T P Q L V S E

220 225 230 235 240

del (16)


T=ter (3) | C=Arg (1) +DsaI

| A=Lys (13,16) | | del (14) a (10)

| | 735 | | |-| 765 778 |

ATT CCG GAG AAG GTG ATC CAA GTA GCC TGT GGT GGA GAG CAT ACT GTG GTT CTC ACG G gtatg tgtgg

TAA GGC CTC TTC CAC TAG GTT CAT CGG ACA CCA CCT CTC GTA TGA CAC CAA GAG TGC C catac acacc

Ile Pro Glu Lys Val Ile Gln Val Ala Cys Gly Gly Glu His Thr Val Val Leu Thr Glu

I P E K V I Q V A C G G E H T V V L T E

245 250 255 260

agtcc actgt tctgt tccct gcgtt ctgtg gtggc taatg aaatt ttttt aatgt tcatt ttttt tatgt tcatt

tcagg tgaca agaca aggga cgcaa gacac caccg attac tttaa aaaaa ttaca agtaa aaaaa ataca agtaa



<---------------------| 7r (1)
IVS 7
|-----------------------> 8f (1)

gttga acgtg acagt ttttc cagat atgat ggtaa cagtg tctgc ttcca taatc cttgt cttgt atttg cccct

caact tgcac tgtca aaaag gtcta tacta ccatt gtcac agacg aaggt attag gaaca gaaca taaac gggga

(13) del


A=Ser (2) |

A (16) | (16) del |-

| 795 810 | (16) del |-

ttcct ttcag AG AAT GCT GTG TAT ACC TTT GGG CTG GGA CAA TTT GGT CAG CTG GGT CTT GGC ACT

aagga aagtc TC TTA CGA CAC ATA TGG AAA CCC GAC CCT GTT AAA CCA GTC GAC CCA GAA CCG TGA

Glu Asn Ala Val Tyr Thr Phe Gly Leu Gly Gln Phe Gly Gln Leu Gly Leu Gly Thr

E N A V Y T F G L G Q F G Q L G L G T

260 265 270 275


|--del (5)----------------------------------------------------------------------------

| G=Val (22) |---del (1)-------|

-| | del (10,13) | del (9) |

|| 840 855 | | 885 | |-| |

TTT CTT TTT GAA ACT TCA GAA CCC AAA GTC ATT GAG AAT ATT AGG GAT GAA ACA ATA AGT TAT ATT

AAA GAA AAA CTT TGA AGT CTT GGG TTT CAG TAA CTC TTA TAA TCC CTA CTT TGT TAT TCA ATA TAA

Phe Leu Phe Glu Thr Ser Glu Pro Lys Val Ile Glu Asn Ile Arg Asp Glu Thr Ile Ser Tyr Ile

F L F E T S E P K V I E N I R D E T I S Y I

280 285 290 295 300

---------------------------------------------------------------------------------------

A=Asn, T=Tyr (16)

T=Arg (9) | a (22)

|A=Tyr (16,15) | c (2,3,5,20)

|| 915 930 | |

TCT TGT GGA GAA AAT CAC ACA GCT TTG ATA ACA G gtatg gatta gaatt tctgt tatat attta tagaa

AGA ACA CCT CTT TTA GTG TGT CGA AAC TAT TGT C catac ctaat cttaa agaca atata taaat atctt

Ser Cys Gly Glu Asn His Thr Ala Leu Ile Thr Asp

S C G E N H T A L I T D

305 310 312

-----------------------------------------------------------------------------------------

ctggg tatat tttat tacaa aataa attat atgtg aaatg aatgt atcta actta agtaa aggaa ttaat ggctg

gaccc atata aaata atgtt ttatt taata tacac tttac ttaca tagat tgaat tcatt tcctt aatta ccgac



<---------------------
---->

agaaa


tcttt

--| 8r (1)


IVS 8
|---------------------------> 9f (1)

gtatg agtta acatg tttat ctgtt tacaa ataga tccat acaag taaca ctttt ataat tctct tcatt atttt

catac tcaat tgtac aaata gacaa atgtt tatct aggta tgttc attgt gaaaa tatta agaga agtaa taaaa

A=Arg (16) G=ter (16)

935 945 | 975 | 990

tgcat tttag AT ATC GGC CTT ATG TAT ACT TTT GGA GAT GGT CGC CAC GGA AAA TTA GGA CTT GGA

acgta aaatc TA TAG CCG GAA TAC ATA TGA AAA CCT CTA CCA GCG GTG CCT TTT AAT CCT GAA CCT

Asp Ile Gly Leu Met Tyr Thr Phe Gly Asp Gly Arg His Gly Lys Leu Gly Leu Gly


D I G L M Y T F G D G R H G K L G L G

312 315 320 325 330

T=ter (6) G=Asp (13)

| 1005 1020 | 1050

CTG GAG AAT TTT ACC AAT CAC TTC ATT CCT ACT TTG TGC TCT AAT TTT TTG AGG TTT ATA GTT AAA

GAC CTC TTA AAA TGG TTA GTG AAG TAA GGA TGA AAC ACG AGA TTA AAA AAC TCC AAA TAT CAA TTT

Leu Glu Asn Phe Thr Asn His Phe Ile Pro Thr Leu Cys Ser Asn Phe Leu Arg Phe Ile Val Lys

L E N F T N H F I P T L C S N F L R F I V K

335 340 345 350

1059

TTG gtaag ggcat cacat ttccc tgttt atatt ttcat attac tgtat ttgag tcttt cagta tttca tggaa



AAC cattc ccgta gtgta aaggg acaaa tataa aagta taatg acata aactc agaaa gtcat aaagt acctt

Leu <-----------------------| 9r (1)

L

353
aataa gtaat tttat



ttatt catta aaata
IVS9
10f (1) |---------------------->

accac taaat aaatg tctta cagct gataa ctgtt aaaaa ctcat ttgtg tttga agcca atgtt gatga gtttt

tggtg attta tttac agaat gtcga ctatt gacaa ttttt gagta aacac aaact tcggt tacaa ctact caaaa
(16,

ins T 2,3,13) del (13,16)

1060 1065 1080 | 1095 |

tctgt ggatt tatgc tgcag GTT GCT TGT GGT GGA TGT CAC ATG GTA GTT TTT GCT GCT CCT CAT CGT

agaca cctaa atacg acgtc CAA CGA ACA CCA CCT ACA GTG TAC CAT CAA AAA CGA CGA GGA GTA GCA

Val Ala Cys Gly Gly Cys His Met Val Val Phe Ala Ala Pro His Arg

V A C G G C H M V V F A A P H R

353 355 360 365

T=ter (10) A=Ala (13)

1110 | 1125 1140 1155 | 1170

GGT GTG GCA AAA GAA ATT GAA TTC GAT GAA ATA AAT GAT ACT TGC TTA TCT GTG GCG ACT TTT CTG

CCA CAC CGT TTT CTT TAA CTT AAG CTA CTT TAT TTA CTA TGA ACG AAT AGA CAC CGC TGA AAA GAC

Gly Val Ala Lys Glu Ile Glu Phe Asp Glu Ile Asn Asp Thr Cys Leu Ser Val Ala Thr Phe Leu

G V A K E I E F D E I N D T C L S V A T F L

370 375 380 385 390

1185 1200 1215 1230

CCG TAT AGC AGT TTA ACC TCA GGA AAT GTA CTG CAG AGG ACT CTA TCA GCA CGT ATG CGG CGA AGA

GGC ATA TCG TCA AAT TGG AGT CCT TTA CAT GAC GTC TCC TGA GAT AGT CGT GCA TAC GCC GCT TCT

Pro Tyr Ser Ser Leu Thr Ser Gly Asn Val Leu Gln Arg Thr Leu Ser Ala Arg Met Arg Arg Arg

P Y S S L T S G N V L Q R T L S A R M R R R

395 400 405 410
ins AG (14)

| g (20) g (13)

1245 | |

GAG AGG gtaca attgt ggcct attct gtata atagt attat ctagc actgc aaaga aaact agaag aaaaa

CTC TCC catgt taaca ccgga taaga catat tatca taata gatcg tgacg tttct tttga tcttc ttttt

Glu Arg 10r (1) <-----------------------|


E R

415

aatct gtttt

ttaga caaaa
IVS10
|------------------------> 11f (1)

tgtt ggcat acttt gaact ttctc ttaaa tattt tagca acttt tagga aagtt tatat caata ttaaa tatat

acaa ccgta tgaaa cttga aagag aattt ataaa atcgt tgaaa atcct ttcaa atata gttat aattt atata

|------del (10)----

del | (10,13) Lys=A

| 1246 1260 | |

aacat catga aatag tttgt ttaac ctgct tattt taaag GAG AGG TCT CCA cTCT TTT TCA ATG AGG

ttgta gtact ttatc aaaca aattg gacga ataaa atttc CTC TCC AGA GGT CTA AGA AAA AGT TAC TCC

Glu Arg Ser Pro Asp Ser Phe Ser Met Arg

E R S P D S F S M R

416 420 425
----| G=Val (13,10) A=Asp (2,3,16)

| 1290 | 1305 | 1320 1335

AGA ACA CTA CCT CCA ATA GAA GGG ACT CTT GGC CTT TCT GCT TGT TTT CTC CCC AAT TCA GTC TTT

TCT TGT GAT GGA GGT TAT CTT CCC TGA GAA CCG GAA AGA CGA ACA AAA GAG GGG TTA AGT CAG AAA

Arg Thr Leu Pro Pro Ile Glu Gly Thr Leu Gly Leu Ser Ala Cys Phe Leu Pro Asn Ser Val Phe

R T L P P I E G T L G L S A C F L P N S V F

430 435 440 445

del (13,14,16) del (2)

1350 1365 ||1380 1395 |---|

CCA CGA TGT TCT GAG AGA AAC CTC CAA GAG AGT GTC TTA TCT GAA CAG GAC CTC ATG CAG CCA GAG

GGT GCT ACA AGA CTC TCT TTG GAG GTT CTC TCA CAG AAT AGA CTT GTC CTG GAG TAC GTC GGT CTC

Pro Arg Cys Ser Glu Arg Asn Leu Gln Glu Ser Val Leu Ser Glu Gln Asp Leu Met Gln Pro Glu

P R C S E R N L Q E S V L S E Q D L M Q P E

450 455 460 465

1410 1414

GAA CCA G gtaac atttg ctact ctgtc tgctc tcagg ataaa tgtgc ctttt attcc tgtag ttttt atgtt

CTT GGT C cattg taaac gatga gacag acgag agtcc tattt acacg gaaaa taagg acatc aaaaa tacaa

Glu Pro Asp <-----------------------| 11r (1)

E P D

470 472


tatct taaga tgttt tctcc agtta tttaa attgt tctct ccctg gttag agcct aacat cactc atttg aactc

ataga attct acaaa agagg tcaat aaatt taaca agaga gggac caatc tcgga ttgta gtgag taaac ttgag

aaatc cggga atatc cttac aagta gaaag cacca tcagt gctcc taaga ctgcc atgta accac agcag catat

tttag gccct tatag gaatg ttcat ctttc gtggt agtca cgagg attct gacgg tacat tggtg tcgtc gtata

cttta tagag cagtg gataa cagtt atagt acatt cctta acttt atccc cttta aaccc tgaaa ccact tgatg

gaaat atctc gtcac ctatt gtcaa tatca tgtaa ggaat tgaaa taggg gaaat ttggg acttt ggtga actac

aactt aggag ggagt tatag tcttc atttt agagat

ttgaa tcctc cctca atatc agaag taaaa tctcta


IVS11
|----------------------

atgag gttaa aggac tttta gtaaa attat accta cactt tatat tatag aataa tttct gtttt ctgtc cagtt

tactc caatt tcctg aaaat cattt taata tggat gtgaa atata atatc ttatt aaaga caaaa gacag gtcaa

-> 12f (1) 1415 1425

gcctt tcact tttct gttga aatct ggatt tcctt tttcc cattt aatca ttcag AT TAT TTG CTA GAT GAA

cggaa agtga aaaga caact ttaga cctaa aggaa aaagg gtaaa ttagt aagtc TA ATA AAC GAT CTA CTT

Asp Tyr Leu Leu Asp Glu

D Y L L D E

472 475

del (6)


1440 1455 1470 | 1485

ATG ACC AAA GAA GCA GAG ATA GAT AAT TCT TCA ACT GTA GAA AGC CTT GGA GAA ACT ACT GAT ATC

TAC TGG TTT CTT CGT CTC TAT CTA TTA AGA AGT TGA CAT CTT TCG GAA CCT CTT TGA TGA CTA TAG

Met Thr Lys Glu Ala Glu Ile Asp Asn Ser Ser Thr Val Glu Ser Leu Gly Glu Thr Thr Asp Ile


M T K E A E I D N S S T V E S L G E T T D I

480 485 490 495

1500 1506

TTA AAC ATG gtaat gattt cctat ctatt tatct aaata tgagt ttgaa tttta gttca ttgtg tatgt gaatg

AAT TTG TAC catta ctaaa ggata gataa ataga tttat actca aactt aaaat caagt aacac ataca cttac

Leu Asn Met <----------------------

L N M

500 502

tgtgt atact

acaca tatga

--| 12r (1)


IVS12
|del| (13)

| a (13)


| |(13,c

|-------------------------> 13f (1) | | 10)|

aattg agagc ggatt ctatt actat ctgaa ctgtt ttccc ttcat tttat atata tatat atata aaaat atata

ttaac tctcg cctaa gataa tgata gactt gacaa aaggg aagta aaata tatat atata tatat tttta tatat

c (10)

|

tataa ttgaa aatat actat atatt tgtac tatat acaaa tatat agtat atata ctgta ttctt tttat aatat



atatt aactt ttata tgata tataa acatg atata tgttt atata tcata tatat gacat aagaa aaata ttata

del (7,10)

1507|| 1515 1530 1545

atatt tttta tttat ttcag ACA CAC ATC ATG AGC CTG AAT TCC AAT GAA AAG TCA TTA AAA TTA TCA

tataa aaaat aaata aagtc TGT GTG TAG TAC TCG GAC TTA AGG TTA CTT TTC AGT AAT TTT AAT AGT

Thr His Ile Met Ser Leu Asn Ser Asn Glu Lys Ser Leu Lys Leu Ser


T H I M S L N S N E K S L K L S

503 505 510 515

g (13)


1560 1572 |

CCA GTT CAG AAA CAA AAG gtata atatg aagat ttatt ttcgt tattg ttggt gagag cagtt taagt taatt

GGT CAA GTC TTT GTT TTC catat tatac ttcta aataa aagca ataac aacca ctctc gtcaa attca attaa

Pro Val Gln Lys Gln Lys 13r (1)<-------------------------|


P V Q K Q K

520 524

ttttg


aaaac
IVS 13
|---

cttg


gaac
----------------------> 14f (1)

ctatt ttgat tctcc taaac ttata aaaat gtaaa atctt ggcag tattt aaagt agata agttg tcctt gtcaa

gataa aacta agagg atttg aatat tttta cattt tagaa ccgtc ataaa tttca tctat tcaac aggaa cagtt

g (22)


|a (13)

g (20) || |---| del (13,10) (16) Met=T

| || | | 1590 |

ctaat agtag tatga catat gataa ttact tcaaa aaatt tacag AAA CAA CAA ACA ATT GGG GAA CTG ACG

gatta tcatc atact gtata ctatt aatga agttt tttaa atgtc TTT GTT GTT TGT TAA CCC CTT GAC TGC

Lys Gln Gln Thr Ile Gly Glu Leu Thr

K Q Q T I G E L T

525 530


1605 1620 1635 1650 1665

CAG GAT ACA GCT CTT ACT GAA AAC GAT GAT AGT GAT GAA TAT GAA GAA ATG TCA GAA ATG AAA GAA

GTC CTA TGT CGA GAA TGA CTT TTG CTA CTA TCA CTA CTT ATA CTT CTT TAC AGT CTT TAC TTT CTT

Gln Asp Thr Ala Leu Thr Glu Asn Asp Asp Ser Asp Glu Tyr Glu Glu Met Ser Glu Met Lys Glu


Q D T A L T E N D D S D E Y E E M S E M K E

535 540 545 550 555

A=Glu (10,13,15,16)

1680 1695 | 1710 1725

GGG AAA GCA TGT AAA CAA CAT GTG TCA CAA GGG ATT TTC ATG ACG CAG CCA GCT ACG ACT ATC GAA

CCC TTT CGT ACA TTT GTT GTA CAC AGT GTT CCC TAA AAG TAC TGC GTC GGT CGA TGC TGA TAG CTT

Gly Lys Ala Cys Lys Gln His Val Ser Gln Gly Ile Phe Met Thr Gln Pro Ala Thr Thr Ile Glu

G K A C K Q H V S Q G I F M T Q P A T T I E

560 565 570 575

1740 1744

GCA TTT TCA GAT G gtaat gacac aggcc aggtg ggacc tcagg ctgac actga tggag agggt ttaca aaaag

CGT AAA AGT CTA C catta ctgtg tccgg tccac cctgg agtcc gactg tgact acctc tccca aatgt ttttc

Ala Phe Ser Asp Gly <---------------------| 14r (1)


A F S D G

580 582

aggta tatag acatg aaaat aataa tggtg ttgat caact tgatg ctaag gaaat agaaa aggaa agtga tggag

tccat atatc tgtac tttta ttatt accac aacta gttga actac gattc cttta tcttt tcctt tcact acctc
gacac agtca gaagg aatca gaagc agaag aaata gacag tgaga aggaa actaa actgg cagaa atagc aggta

ctgtg tcagt cttcc ttagt cttcg tcttc tttat ctgtc actct tcctt tgatt tgacc gtctt tatcg tccat


tgaag gattt aagag aaagg gaaaa gagta caaaa aagat gagtc ctttc tttgg caact tacca gatag aggta

acttc ctaaa ttctc tttcc ctttt ctcat gtttt ttcta ctcag gaaag aaacc gttga atggt ctatc tccat


tgaat actga gagtg aagaa aataa agatt ttgtt aagaa aaggg aaagt tgcaa gcaag atgtg atctt tgaca

actta tgact ctcac ttctt ttatt tctaa aacaa ttctt ttccc tttca acgtt cgttc tacac tagaa actgt


gtgaa agaga atcag tagaa aagcc agaca gttac atgga aggtg caagt gagag tcaac agggt atagc tgatg

cactt tctct tagtc atctt ttcgg tctgt caatg tacct tccac gttca ctctc agttg tccca tatcg actac


gattc cagca gcctg aggca ataga attta gtagt ggaga gaaag aggat gatga agtgg aaact gacca aaaca

ctaag gtcgt cggac tccgt tatct taaat catca cctct ctttc tccta ctact tcacc tttga ctggt tttgt

|------------------------> 15f (1)

tacgg tatgg cagga aattg attga acaag gaaat gaaaa agaga ctaaa cccat aatat ccaaa tccat ggcaa

atgcc atacc gtcct ttaac taact tgttc cttta ctttt tctct gattt gggta ttata ggttt aggta ccgtt
agtat gattt taaat gtgat cgctt gtcag

tcata ctaaa attta cacta gcgaa cagtc

1745 1755 1770 1785 1800

|------------------------> ORF15-1f (23)

AG GAA GTA GAG ATC CCA GAG GAG AAG GAA GGA GCA GAG GAT TCA AAA GGA AAT GGA ATA GAG GAG

TC CTT CAT CTC TAG GGT CTC CTC TTC CTT CCT CGT CTC CTA AGT TTT CCT TTA CCT TAT CTC CTC

Glu Glu Val Glu Ile Pro Glu Glu Lys Glu Gly Ala Glu Asp Ser Lys Gly Asn Gly Ile Glu Glu

E E V E I P E E K E G A E D S K G N G I E E

582 585 590 595 600

ins A (13)

1815 1830 | 1845 1860 1875

CAA GAG GTA GAA GCA AAT GAG GAA AAT GTG AAG GTG CAT GGA GGA AGA AAG GAG AAA ACA GAG ATC

GTT CTC CAT CTT CGT TTA CTC CTT TTA CAC TTC CAC GTA CCT CCT TCT TTC CTC TTT TGT CTC TAG

Gln Glu Val Glu Ala Asn Glu Glu Asn Val Lys Val His Gly Gly Arg Lys Glu Lys Thr Glu Ile

Q E V E A N E E N V K V H G G R K E K T E I

605 610 615 620 625

1890 1905

CTA TCA GAT GAC CTT ACA GAC AAA GCA GAG

GAT AGT CTA CTG GAA TGT CTG TTT CGT CTC

Leu Ser Asp Asp Leu Thr Asp Lys Ala Glu


L S D D L T D K A E

630 635


ORF15


1920 1935 1950 1965

GTG AGT GAA GGC AAG GCA AAA TCA GTG GGA GAA GCA GAG GAT GGG CCT GAA GGT AGA GGG GAT GGA

CAC TCA CTT CCG TTC CGT TTT AGT CAC CCT CTT CGT CTC CTA CCC GGA CTT CCA TCT CCC CTA CCT

<-----------------------| 15r (1)

Val Ser Glu Gly Lys Ala Lys Ser Val Gly Glu Ala Glu Asp Gly Pro Glu Gly Arg Gly Asp Gly

V S E G K A K S V G E A E D G P E G R G D G

640 645 650 655

T=ter (19)

1980 1995 | 2025

|----------

ACC TGT GAG GAA GGT AGT TCA GGA GCA GAA CAC TGG CAA GAT GAG GAG AGG GAG AAG GGG GAG AAA

TGG ACA CTC CTT CCA TCA AGT CCT CGT CTT GTG ACC GTT CTA CTC CTC TCC CTC TTC CCC CTC TTT

Thr Cys Glu Glu Gly Ser Ser Gly Ala Glu His Trp Gln Asp Glu Glu Arg Glu Lys Gly Glu Lys

T C E E G S S G A E H W Q D E E R E K G E K

660 665 670 675


G=Glu (16) T=ter (16)

2040 | 2070 | 2085 2100

GAC AAG GGT AGA GGA GAA ATG GAG AGG CCA GGA GAG GGA GAG AAG GAA CTA GCA GAG AAG GAA GAA

CTG TTC CCA TCT CCT CTT TAC CTC TCC GGT CCT CTC CCT CTC TTC CTT GAT CGT CTC TTC CTT CTT

-------------> ORF15-2f (23) <--------

Asp Lys Gly Arg Gly Glu Met Glu Arg Pro Gly Glu Gly Glu Lys Glu Leu Ala Glu Lys Glu Glu

D K G R G E M E R P G E G E K E L A E K E E

680 685 690 695 700

del (16)

| | ins 4 bp (16) |----------------------dup (5)----

|---| | 2130 2145 2160

TGG AAG AAG AGG GAT GGG GAA GAG CAG GAG CAA AAG GAG AGG GAG CAG GGC CAT CAG AAG GAA AGA

ACC TTC TTC TCC CTA CCC CTT CTC GTC CTC GTT TTC CTC TCC CTC GTC CCG GTA GTC TTC CTT TCT

----------------| ORF15-1r (23)

Trp Lys Lys Arg Asp Gly Glu Glu Gln Glu Gln Lys Glu Arg Glu Gln Gly His Gln Lys Glu Arg

W K K R D G E E Q E Q K E R E Q G H Q K E R

705 710 715 720

T=ter (16)

| A=Glu (16)

-------------------------------------------------------------| | | A=Glu (19) del

2175 2190 2205 | | | | |-

AAC CAA GAG ATG GAG GAG GGA GGG GAG GAG GAG CAT GGA GAA GGA GAA GAA GAG GAG GGA GAC AGA

TTG GTT CTC TAC CTC CTC CCT CCC CTC CTC CTC GTA CCT CTT CCT CTT CTT CTC CTC CCT CTG TCT

Asn Gln Glu Met Glu Glu Gly Gly Glu Glu Glu His Gly Glu Gly Glu Glu Glu Glu Gly Asp Arg

N Q E M E E G G E E E H G E G E E E E G D R

725 730 735 740 745

T=ter (5) T=Gly (19)

(16)del (5) | del (16) | T=ter (16) del (16)

-| || | || | | 2265 || 2280 2295

GAA GAG GAA GAA GAG AAG GAG GGA GAA GGG AAA GAG GAA GGA GAA GGG GAA GAA GTG GAG GGA GAA

CTT CTC CTT CTT CTC TTC CTC CCT CTT CCC TTT CTC CTT CCT CTT CCC CTT CTT CAC CTC CCT CTT

Glu Glu Glu Glu Glu Lys Glu Gly Glu Gly Lys Glu Glu Gly Glu Gly Glu Glu Val Glu Gly Glu

E E E E E K E G E G K E E G E G E E V E G E

750 755 760 765

G=Arg (5)

del (16) del (16)

del (19) del(19) | A=Thr (16,19) ||

2310 | | 2325 | | 2355 ||-------------

|----

CGT GAA AAG GAG GAA GGA GAG AGG AAA AAG GAG GAA AGA GCG GGG AAG GAG GAG AAA GGA GAG GAA



GCA CTT TTC CTC CTT CCT CTC TCC TTT TTC CTC CTT TCT CGC CCC TTC CTC CTC TTT CCT CTC CTT

Arg Glu Lys Glu Glu Gly Glu Arg Lys Lys Glu Glu Arg Ala Gly Lys Glu Glu Lys Gly Glu Glu

R E K E E G E R K K E E R A G K E E K G E E

770 775 780 785

del(5) del (5,19) del (5)

del (19) | | del (16) del (16) ||

---------| 2385 |-| |--|| |-| ||2430

--------------------> ORF15-3 (23)

GAA GGA GAC CAA GGA GAG GGG GAA GAG GAG GAA ACA GAG GGG AGA GGG GAG GAA AAA GAG GAG GGA

CTT CCT CTG GTT CCT CTC CCC CTT CTC CTC CTT TGT CTC CCC TCT CCC CTC CTT TTT CTC CTC CCT

Glu Gly Asp Gln Gly Glu Gly Glu Glu Glu Glu Thr Glu Gly Arg Gly Glu Glu Lys Glu Glu Gly

E G D Q G E G E E E E T E G R G E E K E E G

790 795 800 805 810

del (5)|-----del (5,24)---| (16) ins G

|---| | 2460 | 2475 2490 |

GGG GAA GTA GAG GGA GGG GAA GTA GAG GAG GGG AAA GGA GAG AGG GAA GAG GAA GAG GAG GAG GGT

CCC CTT CAT CTC CCT CCC CTT CAT CTC CTC CCC TTT CCT CTC TCC CTT CTC CTT CTC CTC CTC CCA

<------------------------| ORF15-2r (23)

Gly Glu Val Glu Gly Gly Glu Val Glu Glu Gly Lys Gly Glu Arg Glu Glu Glu Glu Glu Glu Gly

G E V E G G E V E E G K G E R E E E E E E G

815 820 825 830

del (5) T=ter (5)

|--------del (5)------|----|

2505 2520 | 2535 | 2550 | | 2565

GAG GGG GAA GAG GAG GAA GGG GAG GGG GAA GAG GAG GAA GGG GAG GGG GAA GAG GAG GAA GGA GAA

CTC CCC CTT CTC CTC CTT CCC CTC CCC CTT CTC CTC CTT CCC CTC CCC CTT CTC CTC CTT CCT CTT

Glu Gly Glu Glu Glu Glu Gly Glu Gly Glu Glu Glu Glu Gly Glu Gly Glu Glu Glu Glu Gly Glu


E G E E E E G E G E E E E G E G E E E E G E


835 840 845 850 855

del (17) |----del (5)------|

| ins GG (17) ins A (5)

2580 || 2595 | 2610 | | 2625|

GGG AAA GGG GAG GAA GAA GGG GAA GAA GGA GAA GGG GAG GAA GAA GGG GAG GAA GGA GAA GGG GAG

CCC TTT CCC CTC CTT CTT CCC CTT CTT CCT CTT CCC CTC CTT CTT CCC CTC CTT CCT CTT CCC CTC

Gly Lys Gly Glu Glu Glu Gly Glu Glu Gly Glu Gly Glu Glu Glu Gly Glu Glu Gly Glu Gly Glu

G K G E E E G E E G E G E E E G E E G E G E

860 865 870 875

T=ter (5) del (5)

2640 | 2655 |--| 2685

GGG GAA GAG GAG GAA GGA GAA GGG GAG GGA GAA GAG GAA GGA GAA GGG GAG GGA GAA GAG GAG GAA

CCC CTT CTC CTC CTT CCT CTT CCC CTC CCT CTT CTC CTT CCT CTT CCC CTC CCT CTT CTC CTC CTT

Gly Glu Glu Glu Glu Gly Glu Gly Glu Gly Glu Glu Glu Gly Glu Gly Glu Gly Glu Glu Glu Glu

G E E E E G E G E G E E E G E G E G E E E E

880 885 890 895

del (5) (5) del

2700 2715 || 2745 2760 ||

GGA GAA GGG GAG GGA GAA GAG GAA GGA GAA GGG GAG GGA GAA GAG GAG GAA GGA GAA GGG AAA GGG

CCT CTT CCC CTC CCT CTT CTC CTT CCT CTT CCC CTC CCT CTT CTC CTC CTT CCT CTT CCC TTT CCC

Gly Glu Gly Glu Gly Glu Glu Glu Gly Glu Gly Glu Gly Glu Glu Glu Glu Gly Glu Gly Lys Gly

G E G E G E E E G E G E G E E E E G E G K G

900 905 910 915 920

2775 2790 2805 2820

GAG GAG GAA GGA GAG GAA GGA GAA GGG GAG GGG GAA GAG GAG GAA GGA GAA GGG GAA GGG GAG GAT

CTC CTC CTT CCT CTC CTT CCT CTT CCC CTC CCC CTT CTC CTC CTT CCT CTT CCC CTT CCC CTC CTA

Glu Glu Glu Gly Glu Glu Gly Glu Gly Glu Gly Glu Glu Glu Glu Gly Glu Gly Glu Gly Glu Asp

E E E G E E G E G E G E E E E G E G E G E D

925 930 935 940

(5) del


2835 2850 2865 2880 |

GGA GAA GGG GAG GGG GAA GAG GAG GAA GGA GAA TGG GAG GGG GAA GAG GAG GAA GGA GAA GGG GAG

CCT CTT CCC CTC CCC CTT CTC CTC CTT CCT CTT ACC CTC CCC CTT CTC CTC CTT CCT CTT CCC CTC

Gly Glu Gly Glu Gly Glu Glu Glu Glu Gly Glu Trp Glu Gly Glu Glu Glu Glu Gly Glu Gly Glu

G E G E G E E E E G E W E G E E E E G E G E

945 950 955 960 965

|----------------dup (5)-----------|

2910 2925 2940 2955 2970

GGG GAA GAG GAA GGA GAA GGG GAA GGG GAG GAA GGA GAA GGG GAG GGG GAA GAG GAG GAA GGA GAA

CCC CTT CTC CTT CCT CTT CCC CTT CCC CTC CTT CCT CTT CCC CTC CCC CTT CTC CTC CTT CCT CTT

Gly Glu Glu Glu Gly Glu Gly Glu Gly Glu Glu Gly Glu Gly Glu Gly Glu Glu Glu Glu Gly Glu

G E E E G E G E G E E G E G E G E E E E G E

970 975 980 985 990

del (5)


2985 | | 3000 3015 3030

GGG GAG GGG GAA GAG GAG GAA GGG GAA GAA GAA GGG GAG GAA GAA GGA GAG GGA GAG GAA GAA GGG

CCC CTC CCC CTT CTC CTC CTT CCC CTT CTT CTT CCC CTC CTT CTT CCT CTC CCT CTC CTT CTT CCC

Gly Glu Gly Glu Glu Glu Glu Gly Glu Glu Glu Gly Glu Glu Glu Gly Glu Gly Glu Glu Glu Gly

G E G E E E E G E E E G E E E G E G E E E G

995 1000 1005 1010


(16,19, 16,5) del

del (5) |------del 5) | |------del (5)-|(23)del |

3045 3060 || |3075 | | 3090 | || |-

GAG GGA GAA GGG GAG GAA GAA GAG GAA GGG GAA GTG GAA GGG GAG GTG GAA GGG GAG GAA GGA GAG

CTC CCT CTT CCC CTC CTT CTT CTC CTT CCC CTT CAC CTT CCC CTC CAC CTT CCC CTC CTT CCT CTC

Glu Gly Glu Gly Glu Glu Glu Glu Glu Gly Glu Val Glu Gly Glu Val Glu Gly Glu Glu Gly Glu

E G E G E E E E E G E V E G E V E G E E G E

1015 1020 1025 1030 1035


del (23,24)

| 3120 3135 3150 3165

GGG GAA GGA GAG GAA GAG GAA GGA GAG GAG GAA GGA GAA GAA AGG GAA AAG GAG GGG GAA GGA GAA

CCC CTT CCT CTC CTT CTC CTT CCT CTC CTC CTT CCT CTT CTT TCC CTT TTC CTC CCC CTT CCT CTT

Gly Glu Gly Glu Glu Glu Glu Gly Glu Glu Glu Gly Glu Glu Arg Glu Lys Glu Gly Glu Gly Glu

G E G E E E E G E E E G E E R E K E G E G E

1040 1045 1050 1055

T=Gly (5)

3180 3195 3210 3225 |

GAA AAC AGG AGG AAC AGA GAA GAG GAG GAG GAA GAA GAG GGG AAG TAT CAG GAG ACA GGC GAA GAA

CTT TTG TCC TCC TTG TCT CTT CTC CTC CTC CTT CTT CTC CCC TTC ATA GTC CTC TGT CCG CTT CTT

Glu Asn Arg Arg Asn Arg Glu Glu Glu Glu Glu Glu Glu Gly Lys Tyr Gln Glu Thr Gly Glu Glu

E N R R N R E E E E E E E G K Y Q E T G E E

1060 1065 1070 1075

A=Lys (16) A=Val (19)

3240 | 3255 3270 | 3285 3300

GAG AAT GAA AGG CAG GAT GGA GAG GAG TAC AAA AAA GTG AGC AAA ATA AAA GGA TCT GTG AAA TAT

CTC TTA CTT TCC GTC CTA CCT CTC CTC ATG TTT TTT CAC TCG TTT TAT TTT CCT AGA CAC TTT ATA

|-------------------------> ORF15-4f(23)

Glu Asn Glu Arg Gln Asp Gly Glu Glu Tyr Lys Lys Val Ser Lys Ile Lys Gly Ser Val Lys Tyr

E N E R Q D G E E Y K K V S K I K G S V K Y

1080 1085 1090 1095 1100

insA (23)

3315 | 3330 3345 3360

GGC AAA CAT AAA ACA TAT CAA AAA AAG TCA GTT ACT AAC ACA CAG GGA AAT GGG AAA GAG CAG AGG

CCG TTT GTA TTT TGT ATA GTT TTT TTC AGT CAA TGA TTG TGT GTC CCT TTA CCC TTT CTC GTC TCC



<------------------------| ORF15-3r (23)

Gly Lys His Lys Thr Tyr Gln Lys Lys Ser Val Thr Asn Thr Gln Gly Asn Gly Lys Glu Gln Arg

G K H K T Y Q K K S V T N T Q G N G K E Q R

1105 1110 1115 1120

C=Asn (16)

3375 3390 3405 | 3420 3435

TCC AAA ATG CCA GTC CAG TCA AAA CGA CTT TTA AAA AAT GGG CCA TCA GGT TCC AAA AAG TTC TGG

AGG TTT TAC GGT CAG GTC AGT TTT GCT GAA AAT TTT TTA CCC GGT AGT CCA AGG TTT TTC AAG ACC

Ser Lys Met Pro Val Gln Ser Lys Arg Leu Leu Lys Asn Gly Pro Ser Gly Ser Lys Lys Phe Trp

S K M P V Q S K R L L K N G P S G S K K F W

1125 1130 1135 1140 1145

3450 3468 3481 3491 3501

AAT AAT ATA TTA CCA CAT TAC TTG GAA TTG AAG TAA caaac cttaa atgtg acccg attat ggcca

TTA TTA TAT AAT GGT GTA ATG AAC CTT AAC TTC ATT gtttg gaatt tacac tgggc taata ccggt

Asn Asn Ile Leu Pro His Tyr Leu Glu Leu Lys ter

N N I L P H Y L E L K X

1150 1156
3511 3521 3531 3541 3551 3561 3571

gtcag acaat ttaaa tgcct tgcat ataac gggca ctcat tacgt gttat taaat tgatt ttatg tcaat tattt

cagtc tgtta aattt acgga acgta tattg cccgt gagta atgca caata attta actaa aatac agtta ataaa
3581 3591 3601 3611 3621 3631 3641 3651

tatgt gtagt aaaaa aaaag caact gatgc agctg tgtta aggag ccaaa gacaa tagga ggcac tggta aattt

ataca catca ttttt ttttc gttga ctacg tcgac acaat tcctc ggttt ctgtt atcct ccgtg accat ttaaa

<----------
3661 3671 3681 3691 3701 3711 3721

tggcc tctct caaac taaaa ttttc gtgta tttcc ccccc aaatt ataaa aacat aacta gaaaa tatta aaagg

accgg agaga gtttg atttt aaaag cacat aaagg ggggg tttaa tattt ttgta ttgat ctttt ataat tttcc

------------| ORF15-4r (23)


3731 3741 3751 3761 3771 3781 3791 3801

tcata tcaga ttatt aacat tatat attca ttaaa ggcag cttta ggaaa cagga atata ctaca agagt gtttt

agtat agtct aataa ttgta atata taagt aattt ccgtc gaaat ccttt gtcct tatat gatgt tctca caaaa
3811 3821 3831 3841 3851 3861 3871

gtttg tgtat acaaa tcatt ccatt tttaa atggc acaga tgctt aaggg ctata aaaac ttcta atttc ttata

caaac acata tgttt agtaa ggtaa aaatt taccg tgtct acgaa ttccc gatat ttttg aagat taaag aatat
3881 3891 3901 3911 3921 3931 3941 3951

aatat gttag cactt ttttt aagtt agtga ttaca gttta cctac tgtat agaat aattt tctaa taatg gatgg

ttata caatc gtgaa aaaaa ttcaa tcact aatgt caaat ggatg acata tctta ttaaa agatt attac ctacc
….
IVS15
Exon15a
aacaa agggt ccttt tgtga gaggt caggc ccatt cactt cttta ctgtg atcct aacgc aagac acaga catat

ttgtt tccca ggaaa acact ctcca gtccg ggtaa gtgaa gaaat gacac tagga ttgcg ttctg tgtct gtata

actga ccatt tcaga ctacc tgttt acatc ttctt agatg gttct agtgc caaga atgta cttaa acttt actct

tgact ggtaa agtct gatgg acaaa tgtag aagaa tctac caaga tcacg gttct tacat gaatt tgaaa tgaga

1906 1920 1938 1951

ttctt tttat aaaat gacag TAT TCT GCC AGT CAC TCC CAA ATT GTT TCA GTT TAA aaggt aagtg ctttc

aagaa aaata tttta ctgtc ATA AGA CGG TCA GTG AGG GTT TAA CAA AGT CAA ATT ttcca ttcac gaaag

Tyr Ser Ala Ser His Ser Gln Ile Val Ser Val ter


Y S A S H S Q I V S V X

636 640 646
1961 1971 1981 1991 2001 2011 2021 2031

tgtga cttca agtag tcgtc cagat gtgtt tagaa taatt ttaaa tgtgc ttagt ctgtg agtgc tatga tgtga

acact gaagt tcatc agcag gtcta cacaa atctt attaa aattt acacg aatca gacac tcacg atact acact
2041 2051 2061 2071 2081

tttct agtga aaatg tcatt ttcta atagc tttct caaat ttaga aaatg atata gtt

aaaga tcact tttac agtaa aagat tatcg aaaga gttta aatct tttac tatat caa

IVS15a
16f (1) |------------------------->

acaaa ttatt tatga cagca atatc aaatc cctcg ttttt taaca agaaa atctt actct tctct gatgg tcaat

tgttt aataa atact gtcgt tatag tttag ggagc aaaaa attgt tcttt tagaa tgaga agaga ctacc agtta

1906 1920 1935 1950

tttgt cacag GAT CAT GAA TTT TCT AAA ACT GAG GAA CTA AAA CTA GAA GAT GTG GAT GAG GAA ATT

aaaca gtgtc CTA GTA CTT AAA AGA TTT TGA CTC CTT GAT TTT GAT CTT CTA CAC CTA CTC CTT TAA

Asp His Glu Phe Ser Lys Thr Glu Glu Leu Lys Leu Glu Asp Val Asp Glu Glu Ile

D H E F S K T E E L K L E D V D E E I

636 640 645 650

1965 1980 1995 2010 2025

AAT GCT GAA AAT GTG GAA AGC AAG AAG AAA ACT GTG GGA GAT GAT GAA AGT GTT CCT ACA GGT TAT

TTA CGA CTT TTA CAC CTT TCG TTC TTC TTT TGA CAC CCT CTA CTA CTT TCA CAA GGA TGT CCA ATA

Asn Ala Glu Asn Val Glu Ser Lys Lys Lys Thr Val Gly Asp Asp Glu Ser Val Pro Thr Gly Tyr

N A E N V E S K K K T V G D D E S V P T G Y

655 660 665 670 675

2040 2055 2070 2085 2091

CAC AGT AAA ACA GAA GGA GCA GAA AGA ACC AAT GAT GAT AGC TCA GCT GAA ACT ATT GAA AAG gtatg

GTG TCA TTT TGT CTT CCT CGT CTT TCT TGG TTA CTA CTA TCG AGT CGA CTT TGA TAA CTT TTC catac

His Ser Lys Thr Glu Gly Ala Glu Arg Thr Asn Asp Asp Ser Ser Ala Glu Thr Ile Glu Lys

H S K T E G A E R T N D D S S A E T I E K

680 685 690 695 697

atgat agatg cttaa atcct gagat cctgg gagaa aacat atggg ttctc tagtt tctgc agagg acaga ttcca

tacta tctac gaatt tagga ctcta ggacc ctctt ttgta taccc aagag atcaa agacg tctcc tgtct aaggt



<-----------------------| 16r (1)

gttgc


caacg
IVS16
|------------------------> 17f (1)

gactc tagaa cctgc ttaaa gattc agact taagt tttct agaac agcac aaaaa tattt tttgt tatat tgctt

ctgag atctt ggacg aattt ctaag tctga attca aaaga tcttg tcgtg ttttt ataaa aaaca atata acgaa

2092 2100 2115 2130 2145

tgtta ttgtt tatag AAA GAA AAA GCC AAC CTA GAG GAA CGG GCC ATT TGT GAG TAC AAT GAA AAC CCA

acaat aacaa atatc TTT CTT TTT CGG TTG GAT CTC CTT GCC CGG TAA ACA CTC ATG TTA CTT TTG GGT

Lys Glu Lys Ala Asn Leu Glu Glu Arg Ala Ile Cys Glu Tyr Asn Glu Asn Pro

K E K A N L E E R A I C E Y N E N P

698 700 705 710 715

t (13)


2151 |

AAA GGA gtatg agcac atttg ataac ataca tatat acata catac ataca cacat atata tgtgt atgta

TTT CCT catac tcgtg taaac tattg tatgt atata tgtat gtatg tatgt gtgta tatat acaca tacat

Lys Gly <----------

K G

717


tgcca taatt gggta attat aagct

acggt attaa cccat taata ttcga

--------------| 17r (1)
IVS17
|-----------------------> 18f (1)

catag agttt cactg agagc atcag gtctt gtctt tttcc tatta gttaa aacta gtatt tctga atgat ccaat

gtatc tcaaa gtgac tctcg tagtc cagaa cagaa aaagg ataat caatt ttgat cataa agact tacta ggtta
2152 2160 2175 2190 2205

tgtag TAC ATG CTT GAT GAT GCA GAT AGC AGT TCA TTA GAA ATC CTA GAA AAC AGT GAA ACA ACA CCA

acatc ATG TAC GAA CTA CTA CGT CTA TCG TCA AGT AAT CTT TAG GAT CTT TTG TCA CTT TGT TGT GGT

Tyr Met Leu Asp Asp Ala Asp Ser Ser Ser Leu Glu Ile Leu Glu Asn Ser Glu Thr Thr Pro

Y M L D D A D S S S L E I L E N S E T T P

718 720 725 730 735

c (13)

2220 2235 2241 |



AGC AAA GAC ATG AAA AAA ACA AAG AAG gtaag tgaaa tgaat tgtct ttttt gatcc ttttg aattc aattg

TCG TTT CTG TAC TTT TTT TGT TTC TTC cattc acttt actta acaga aaaaa ctagg aaaac ttaag ttaac

Ser Lys Asp Met Lys Lys Thr Lys Lys

S K D M K K T K K

740 745 747

tttgt tttac ttttc atatg gcaat ccaca taatt taact ctctt aatat gagtt ttcat ggccc caaaa cctga

aaaca aaatg aaaag tatac cgtta ggtgt attaa attga gagaa ttata ctcaa aagta ccggg gtttt ggact

<-------------------------| 18r (1)
agaat ttc

tctta aag


IVS18
|---------------------------> 19f (1) 2242

cccct aaata ctgtt aagtg aatgt ttcac ttatg gaaat gaata tttgt gtgtg tggtt ttttt cctag ATT

gggga tttat gacaa ttcac ttaca aagtg aatac cttta cttat aaaca cacac accaa aaaaa ggatc TAA

Ile


I

748


2250 2265 2280 2295 2310

TTT CTG TTC AAA AGA GTC CCC TCA ATA AAT CAA AAG ATT GTC AAG AAT AAC AAT GAG CCG CTC CCA

AAA GAC AAG TTT TCT CAG GGG AGT TAT TTA GTT TTC TAA CAG TTC TTA TTG TTA CTC GGC GAG GGT

Phe Leu Phe Lys Arg Val Pro Ser Ile Asn Gln Lys Ile Val Lys Asn Asn Asn Glu Pro Leu Pro

F L F K R V P S I N Q K I V K N N N E P L P

750 755 760 765 771

2325 2340 2355 2370

GAG ATA AAA TCC ATA GGA GAC CAG ATC ATT TTA AAA AGT GAT AAT AAA GAT GCC GAC CAG AAC CAC

CTC TAT TTT AGG TAT CCT CTG GTC TAG TAA AAT TTT TCA CTA TTA TTT CTA CGG CTG GTC TTG GTG

Glu Ile Lys Ser Ile Gly Asp Gln Ile Ile Leu Lys Ser Asp Asn Lys Asp Ala Asp Gln Asn His

E I K S I G D Q I I L K S D N K D A D Q N H

775 780 785 790

2385 2400 2415 2430

ATG AGT CAG AAT CAT CAG AAT ATC CCA CCA ACA AAT ACA GAG AGA AGA TCA AAA TCC TGT ACA ATA

TAC TCA GTC TTA GTA GTC TTA TAG GGT GGT TGT TTA TGT CTC TCT TCT AGT TTT AGG ACA TGT TAT

Met Ser Gln Asn His Gln Asn Ile Pro Pro Thr Asn Thr Glu Arg Arg Ser Lys Ser Cys Thr Ile

M S Q N H Q N I P P T N T E R R S K S C T I

IIIIIIIIIII

795 800 805 810

2445 2453 2463 2473 2483 2493 2503 2513

CTA TAA atata tattt atgtt ttcac agtca ccaag tgtat tgtaa tgtat acttg aaaaa tgtta taact

GAT ATT tatat ataaa tacaa aagtg tcagt ggttc acata acatt acata tgaac ttttt acaat attga

Leu ter <-------------------------| 19r (1)

L X


III

815
2523 2533 2543 2553 2563 2573 2583

tatga agtaa agttt ctgat agtag tcttt aaaag atata agact taata tgttt tattc agctt ctata agtgt

atact tcatt tcaaa gacta tcatc agaaa ttttc tatat tctga attat acaaa ataag tcgaa gatat tcaca


2593 2603 2613 2623 2633 2643 2653 2663

gacca gtttt gatat ttatt tatgc taata ttttt aacaa gtcat ttcaa aatat gtgta tctca aattc tccct

ctggt caaaa ctata aataa atacg attat aaaaa ttgtt cagta aagtt ttata cacat agagt ttaag aggga
2673 2683 2693 2703 2713 2723 2733

aaagt gttgt ggcct taact gttca gtatt gcaat aaaaa atata ttttt atatg tggaa aaaaa aaaaa aaaaa

tttca caaca ccgga attga caagt cataa cgtta ttttt tatat aaaaa tatac acctt ttttt ttttt ttttt
2743

aaaaa


ttttt
(1)=[1]

(2)=[2]

(3)=[5]

(4)=[3]

(5)=[4]

(6)=[6]

(7)=[7]

(8)=[8]

(9)=[9]

(10)=[10]

(11)=[11]

(12)=[12]

(13)=[13]

(14)=[14]

(15)=[15]

(16)=[16]

(17)=[17]

(18)=[18]

(19)=[19]

(20)=[20]

(21)=[21]

(22)=[22]

(23)=[23]

(24)=[24]


1. Meindl,A., Dry,K., Herrmann,K., Manson,F., Ciccodicola,A., Edgar,A., Carvalho,M.R., Achatz,H., Hellebrand,H., Lennon,A., Migliaccio,C., Porter,K., Zrenner,E., Bird,A., Jay,M., Lorenz,B., Wittwer,B., D'Urso,M., Meitinger,T., Wright,A. (1996) A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat.Genet. 13 (1): 35-42.

2. Roepman,R., van Duijnhoven,G., Rosenberg,T., Pinckers,A.J., Bleeker Wagemakers,L.M., Bergen,A.A.B., Post,J., Beck,A., Reinhardt,R., Ropers,H.H., Cremers,F.P., Berger,W. (1996) Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum.Mol.Genet. 5 (7): 1035-1041.

3. Kirschner,R., Rosenberg,T., Schultz-Heienbrok,R., Lenzner,S., Feil,S., Roepman,R., Cremers,F.P., Ropers,H.H., Berger,W. (1999) RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X- linked retinitis pigmentosa. Hum.Mol.Genet. 8 (8): 1571-1578.

4. Vervoort,R., Lennon,A., Bird,A.C., Tulloch,B., Axton,R., Miano,M.G., Meindl,A., Meitinger,T., Ciccodicola,A., Wright,A.F. (2000) Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat.Genet. 25 (4): 462-466.

5. Guevara-Fujita,M., Fahrner,S., Buraczynska,K., Cook,J., Wheaton,D., Cortes,F., Vicencio,C., Pena,M., Fishman,G., Mintz-Hittner,H., Birch,D., Hoffman,D., Mears,A., Fujita,R., Swaroop,A. (2001) Five novel RPGR mutations in families with X-linked retinitis pigmentosa. Hum.Mutat. 17 (2): 151

6. Liu,L., Jin,L., Liu,M., Wei,Y., Wu,Y., Liu,Y., Wang,H., Chu,R., Chai,J. (2000) Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa. Hum.Mutat.Online.

7. Fishman,G.A., Grover,S., Buraczynska,M., Wu,W., Swaroop,A. (1998) A new 2-base pair deletion in the RPGR gene in a black family with X-linked retinitis pigmentosa. Arch.Ophthalmol. 116 (2): 213-218.

8. Weleber,R.G., Butler,N.S., Murphey,W.H., Sheffield,V.C., Stone,E.M. (1997) X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR. Arch.Ophthalmol. 115 (11): 1429-1435.

9. Zito,I., Thiselton,D.L., Gorin,M.B., Stout,J.T., Plant,C., Bird,A.C., Bhattacharya,S.S., Hardcastle,A.J. (1999) Identification of novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with the RP3 locus. Hum.Genet. 105 (1-2): 57-62.

10. Buraczynska,M., Wu,W., Fujita,R., Buraczynska,K., Phelps,E., Andreasson,S., Bennett,J., Birch,D.G., Fishman,G.A., Hoffman,D.R., Inana,G., Jacobson,S.G., Musarella,M.A., Sieving,P.A., Swaroop,A. (1997) Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa. Am.J.Hum.Genet. 61 (6): 1287-1292.

11. Dry,K.L., Manson,F.D., Lennon,A., Bergen,A.A., van Dorp,D.B., Wright,A.F. (1999) Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3). Hum.Mutat. 13 (2): 141-145.

12. Miano,M.G., Valverde,D., Solans,T., Grammatico,B., Migliaccio,C., Cirigliano,V., DeBernardo,C., Ventruto,V., Meitinger,T., Wright,A., Del Porto,G., Baiget,M., D'Urso,M., Ciccodicola,A. (1998) Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online. Hum.Mutat. 12 (3): 212-213.

13. Zito,I., Gorin,M.B., Plant,C., Bird,A.C., Bhattacharya,S.S., Hardcastle,A.J. (2000) Novel mutations of the RPGR gene in RP3 families. Hum Mutat.Online. 15 (4): 386

14. Bauer,S., Fujita,R., Buraczynska,M., Abrahamson,M., Ehinger,B., Wu,W., Falls,T.J., Andreasson,S., Swaroop,A. (1998) Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene. Invest.Ophthalmol.Vis.Sci. 39 (12): 2470-2474.

15. Sharon,D., Bruns,G.A., McGee,T.L., Sandberg,M.A., Berson,E.L., Dryja,T.P. (2000) X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. Invest Ophthalmol.Vis.Sci. 41 (9): 2712-2721.

16. Rabe,V.W., Sharon,D., Berson,E.L., Dryja,T.P. (2001) The Mutation Spectrum Of RPGR-ORF15 In North American Patients With X-Linked Retinitis Pigmentosa (XLRP). Invest Ophthalmol.Vis.Sci. 42 (4): S642

17. Nao-i,N., Yokoyama,A., Maruiwa,F., Hayakawa,M., Kanai,A., Vervoort,R., Wright,A.F., Yamada,K., Niikawa,N. (2001) Novel Mutations Of RPGR Gene Exon Orf 15 In Japanese Families With X-Linked Retinitis Pigmentosa. Invest Ophthalmol.Vis.Sci. 42 (4): S642

18. Blasi,M.A., Grammatico,P., Rinaldi,R., Grammatico,B., Sasso,P., D'Urso,M., Miano,M.G., Balestrazzi,E. (2001) Genotype-phenotype correlation in X-linked retinitis pigmentosa family with a novel mutation in RPGR gene. Invest Ophthalmol.Vis.Sci. 42 (4): S641

19. Miano,M.G., Vervoort,R., Conte,I., Zullo,A., Lanzara,C., Circolo,D., D'Urso,M., Ayuso,C., Wright,A., Ciccodicola,A. (2001) Mutational analysis of the RPGR Exon ORF 15 in South European patients with X-Linked Retinitis Pigmentosa. Invest Ophthalmol.Vis.Sci. 42 (4): S641

20. Fujita,R., Buraczynska,M., Gieser,L., Wu,W., Forsythe,P., Abrahamson,M., Jacobson,S.G., Sieving,P.A., Andreasson,S., Swaroop,A. (1997) Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families. Am.J.Hum.Genet. 61 (3): 571-580.

21. Linari,M., Ueffing,M., Manson,F., Wright,A., Meitinger,T., Becker,J. (1999) The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase. Proc.Natl.Acad.Sci.U.S.A. 96 (4): 1315-1320.

22. D'Urso,M., Miano,M.G., Testa,F., Simonelli,F., Baiget,M., Ciccodicola,A. (1999) Mutation Analysis In Patients With X-Linked Retinitis Pigmentosa. Invest.Ophthalmol.Vis.Sci. 40 (Suppl.): S469

23. Demirci,F.Y., Rigatti,B.W., Wen,G., Radak,A.L., Mah,T.S., Baic,C.L., Traboulsi,E.I., Alitalo,T., Ramser,J., Gorin,M.B. (2002) X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15. Am.J.Hum.Genet. 70 (4): 1049-1053.



24. Yang,Z., Peachey,N.S., Moshfeghi,D.M., Thirumalaichary,S., Chorich,L., Shugart,Y.Y., Fan,K., Zhang,K. (2002) Mutations in the RPGR gene cause X-linked cone dystrophy. Hum.Mol.Genet. 11 (5): 605-611.
Kataloq: files -> sci-news -> sequence
files -> AZƏrbaycan respublikasi təHSİl naziRLİYİ XƏZƏr universiteti TƏHSİl faküLTƏSİ
files -> Mühazirə otağı/Cədvəl Məhsəti küç., 11 (Neftçilər kampusu), 301 n saylı otaq Mühazirə: Çərşənbə axşamı, saat 16. 40-18. 00
sequence -> Homo sapiens melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) (MC1R), Genbank: nm 002386
sequence -> Tttttgttttttccttcttacagaaggcactaccctggacgccgcttgcaaacgcctgaagagaaggcagggtgttcccactttttcagaatgggaccaggccctacggccccaatagcagaagcttctctaacccaggactgctcccctcaattcctcccaatatgctgaccgacagctcgacctcacctgggggcggttccgccaggggatggcttaggaaaacctcaggaagagcagcccagcgagtgacg
sequence -> Human tyrosinase
sequence -> The sequence is given according to Genebank: af039855, U20477-88, U20510
sequence -> Rpgrip aus

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