The sequence is given according to Genebank: af039855, U20477-88, U20510



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last update: 18.02.2007

RPE65

The sequence is given according to Genebank: AF039855, U20477-88, U20510.

Exons are taken from (16) and sequences were completed with additional data obtained in the editor’s lab

Primers are given according to (2) and (15)

Nucleotide numbering

Aminoacid numbering

Sequence variations (Polymorphism, rare variant, LCA2, ARRP, LCA2 or ARRP)

Mutations detectable by a mutation micro array are given in italics, and shown in grey if no reference can be allocated to these


-170 -160 -150 -140 -130 -120 -110

|-----------------------> E1-f (2)

|---------------------------> RPE65-1f (15)

gaga gctga aagca acttc tgttc cccct ccctc agctg aaggg gtggg gaagg gcctc ccaaa gccat aactc

ctct cgact ttcgt tgaag acaag gggga gggag tcgac ttccc caccc cttcc cggag ggttt cggta ttgag
Transcription start

-100 -90 -80 -70 -60 | -50 -40 -30

ctttt aaggg attta gaagg cataa aaagg cccct ggctg agaac ttcct tcttc attct gcagt tggtg ccaga

gaaaa ttccc taaat cttcc gtatt tttcc gggga ccgac tcttg aagga agaag taaga cgtca accac ggtct


C=Thr(1,14) a (2,3,13,7,17,23,24) (7) a

-20 -10 1| 11 | |

actct ggatc ctgaa ctgga agaaa ATG TCT ATC CA gtaag tatct ctggg agact ttttt aaaac acctt

tgaga cctag gactt gacct tcttt TAC AGA TAG GT cattc ataga gaccc tctga aaaaa ttttg tggaa

M S I Q

Met Ser Ile Gln

1 2 3 4
catgg attca tgata aatgt gctat ttcaa gggct cctga agaga a

gtacc taagt actat ttaca cgata acatt cccga ggact tctct t



<------ag------------------| RPE65-1r (15)

<---------------------------| E1-R (2)
IVS 1
|-----------------------> E2-F (2)

|---------------------------> RPE65-2f (15)

t ctatc tctgc ggact ttgag catca acatg ggctt cttcc ttatt cttcc accat ttcag

a gatag agacg cctga aactc gtagt tgtac ccgaa gaagg aataa gaagg tggta aagtc


del (5)

C=Phe (1) | C=Pro (6,25)

12 15 30 45 | |-|60 | 75

G GTT GAG CAT CCT GCT GGT GGT TAC AAG AAA CTG TTT GAA ACT GTG GAG GAA CTG TCC TCG CCG

C CAA CTC GTA GGA CGA CCA CCA ATG TTC TTT GAC AAA CTT TGA CAC CTC CTT GAC AGG AGC GGC

Q V E H P A G G Y K K L F E Thr V E E L S S P

Gln Val Glu His Pro Ala Gly Gly Tyr Lys Lys Leu Phe Glu Thr Val Glu Glu Leu Ser Ser Pro

4 5 10 15 20 25


insT (2,14)

| 94


CTC ACA GCT CAT GTA ACA G gttgg tctcg cccat cttga agcca tcctc tttta tgtca gttcc tctct

GAG TGT CGA GTA CAT TGT C caacc agagc gggta gaact tcggt aggag aaaat acagt caagg agaga

L T A H V T G <------

Leu Thr Ala His Val Thr Gly <-x--------

30 32
tctct ggctt cctat tcctt ggcgt ctctc agtgc agact ccccc tgtgg gtcac aggga gaggg atcag gtggt

agaga ccgaa ggata aggaa ccgca gagag tctcg tctga ggggg acacc cagtg tccct ctccc tagtc cacca

----------------| RPE65-2r (15)

--------| E2-R (2)


ttggg ctttt tatag caaga accca ttttc tttca ttcgc cttta cttta

aaccc gaaaa atatc gttct tgggt aaaag aaagt aagcg gaaat gaaat


IVS 2
agggc tggaa atgaa aatca ctgcc agctc tatga ggaag aagct gccca atcag gctgc tgata

tcccg acctt tactt ttagt gacgg tcgag atact ccttc ttaga cgggt tagtc agacg actat


|----------------------> E3-F (2) (22) t

|---------------------------> RPE65-3f (15) |

tactc tgcct tacca aggac aagcc tagcc caagg caggg ataag aagca atgtt ctgtc tcccc ttcat cacag

atgag acgga atggt tcctg ttcgg atcgg gttcc gtccc tattc ttcgt tacaa gacag agggg aagta gtgtc


del (27) A=Ser (1,17,23,24)

T=Val (27) |---------| | (17) A=Gln delG (13,23,24)

| 105 | | | | 135 | 150

GC AGG ATC CCC CTC TGG CTC ACC GGC AGT CTC CTT CGA TGT GGG CCA GGA CTC TTT GAA GTT GGA

CG TCC TAG GGG GAG ACC GAG TGG CCG TCA GAG GAA GCT ACA CCC GGT CCT GAG AAA CTT CAA CCT

G R I P L W L T G S L L R C G P G L F E V G

Gly Arg Ile Pro Leu Trp Leu Thr Gly Ser Leu Leu Arg Cys Gly Pro Gly Leu Phe Glu Val Gly

32 35 40 45 50
del ins tt (6)

| T=Tyr (6)

T=ter (3) | | T=Val

165 180 | 195 |-| | 225

TCT GAG CCA TTT TAC CAC CTG TTT GAT GGG CAA GCC CTC CTG CAC AAG TTT GAC TTT AAA GAA GGA

AGA CTC GGT AAA ATG GTG GAC AAA CTA CCC GTT CGG GAG GAC GTG TTC AAA CTG AAA TTT CTT CCT

S E P F Y H L F D G Q A L L H K F D F K E G

Ser Glu Pro Phe Tyr His Leu Phe Asp Gly Gln Ala Leu Leu His Lys Phe Asp Phe Lys Glu Gly

55 60 65 70 75
A=Val (17)

| C=His (14)

| | 240 245

CAT GTC ACA TAC CAC AGA AG gtaaa gcagc actcc atgcc actcc tcctc ctcaa agtag ggcct agctt

GTA CAG TGT ATG GTG TCT TC cattt cgtcg tgagg tacgg tgagg aggag gagtt tcatc ccgga tcgaa

H V T Y H R R RPE65-3r (15) <---------------------------|

His Val Thr Tyr His Arg Arg

80 82
ggctc ctcct cccat gtgag ttttc acctc tgaac tcagg aggca accta tatac ccact ttctt ctcac aatgt

ccgag gagga gggta cactc aaaag tggag acttg agtcc tccgt tggat atatg ggtga aagaa gagtg ttaca

<----------------------| E3-R (2)
acctg ggcca gtgtg tctgc atgga tacga gggaa catta tcatg

tggac ccggt cacac agacg tacct atgct ccctt gtaat agtac


IVS 3
taata aaacc cttta ttctt catgt tgtgc attta tgatt gtgac ttgat gagga cacat agaat

attat tttgg gaaat aagaa gtaca acacg taaat actaa cactg aacta ctcct gtgta tctta


|---------------------> E4-F (2)

|---------------------------> RP4f (15)

ggcca ttcta agctc cacat gggct gtacg gattg ctcct gtcta tactc ttccc tatgt ttcaa tgtcc ttcag

ccggt aagat tcgag gtgta cccga catgc ctaac gagga cagat atgag aaggg ataca aagtt acagg aagtc


T=Trp (1,14)

|A=Gln (8,14,23,24,17)

|G=Pro del20bp (13,14,18)

|ins A |-----------------------|

|| | ter=T (19)

A=His (14) || C=Gln (14) (23,24,1,14 Lys=A 5)

246 | 270 || | | 300 | |

G TTC ATC CGC ACT GAT GCT TAC GTA CGG GCA ATG ACT GAG AAA AGG ATC GTC ATA ACA GAA TTT

C AAG TAG GCG TGA CTA CGA ATG CAT GCC CGT TAC TGA CTC TTT TCC TAG CAG TAT TGT CTT AAA

R F I R T D A Y V R A M T E K R I V I T E F

Arg Phe Ile Arg Thr Asp Ala Tyr Val Arg Ala Met Thr Glu Lys Arg Ile Val Ile Thr Glu Phe

82 85 90 95 100
T=Val t (5)

| 315 330 345 353 |

GGC ACC TGT GCT TTC CCA GAT CCC TGC AAG AAT ATA TTT TCC AG gttac tgaac ccaaa ctgaa tgtta

CCG TGG ACA CGA AAG GGT CTA GGG ACG TTC TTA TAT AAA AGG TC caatg acttg ggttt gactt acaat

G T C A F P D P C K N I F S R

Gly Thr Cys Ala Phe Pro Asp Pro Cys Lys Asn Ile Phe Ser Arg

105 110 115 118
ctcaa gacat tttat attag ccctt tttct ctcat tttta tatta gccct ttttc tctc

gagtt ctgta aaata taatc gggaa aaaga gagta aaaat ataat cggga aaaag agag

RPE65-4r <--------------------------|
IVS 4
ter=T (14,23,24)

|------------------------> RPE65-5f (15) 354 360 | 375

ggc ttgaa aatta ctgga ctgaa aaatt cattt gtttc tacag G TTT TTT TCT TAC TTT CGA GGA GTA

ccg aactt ttaat gacct gactt tttaa gtaaa caaag atgtc C AAA AAA AGA ATG AAA GCT CCT CAT

R F F S Y F R G V

Arg Phe Phe Ser Tyr Phe Arg Gly Val

118 120 125
(22) Asp=T

A=Thr (1,14) G=Asp (17) |

| C=Leu (1) | T=Tyr (1) |

390 | | 405 420 | | 435 |

GAG GTT ACT GAC AAT GCC CTT GTT AAT GTC TAC CCA GTG GGG GAA GAT TAC TAC GCT TGC ACA GAG

CTC CAA TGA CTG TTA CGG GAA CAA TTA CAG ATG GGT CAC CCC CTT CTA ATG ATG CGA ACG TGT CTC

E V T D N A L V N V Y P V G E D Y Y A C T E

Glu Val Thr Asp Asn Ala Leu Val Asn Val Tyr Pro Val Gly Glu Asp Tyr Tyr Ala Cys Thr Glu

130 135 140 145


ins g

450 465 480 495 |

ACC AAC TTT ATT ACA AAG ATT AAT CCA GAG ACC TTG GAG ACA ATT AAG CAG gtggg acaca gtgct

TGG TTG AAA TAA TGT TTC TAA TTA GGT CTC TGG AAC CTC TGT TAA TTC GTC caccc tgtgt cacga

T N F I T K I N P E T L E T I K Q

Thr Asn Phe Ile Thr Lys Ile Asn Pro Glu Thr Leu Glu Thr Ile Lys Gln

150 155 160 165
aggtg atgtt cagga attta gaatt tggaa cttaa aatta attca ccaac ataaa ttatt catgc tgcga atgta

tccac tacaa gtcct taaat cttaa acctt gaatt ttaat taagt ggttg tattt aataa gtacg acgct tacat

RPE65-5r (15) <-------------------------t-| <----------------
tgatt ctaac ttgat gagga cacac agaat gacca ttcca agctc caaat

actaa gattg aacta ctcct gtgtg tctta ctggt aaggt tcgag gttta

---------| E5-R (2)
IVS 5
agagg gtaga atcca gagag atggg aagaa agaga agtgc actta ggatg agagt tcaag gggta gtgat

tctcc catct taggt ctctc taccc ttctt tctct tcacg tgaat cctac tctca agttc cccat cacta


|----------------------------> R6-F (2)

|---------------------------> RPE65-6f (15)

gacct cagac ctagg gacaa aggta taatg tatct tcctt ctctc aactg gagga cattc acttt acttc cgtag

ctgga gtctg gatcc ctgtt tccat attac ataga aggaa gagag ttgac ctcct gtaag tgaaa tgaag gcatc


C=Asn (22)

T=Tyr (14) T=Tyr (1,23,24,17)

498 | 510 525 540 | 555

GTT GAT CTT TGC AAC TAT GTC TCT GTC AAT GGG GCC ACT GCT CAC CCC CAC ATT GAA AAT GAT GGA

CAA CTA GAA ACG TTG ATA CAG AGA CAG TTA CCC CGG TGA CGA GTG GGG GTG TAA CTT TTA CTA CCT

V D L C N Y V S V N G A T A H P H I E N D G

Val Asp Leu Cys Asn Tyr Val Ser Val Asn Gly Ala Thr Ala His Pro His Ile Glu Asn Asp Gly

166 170 175 180 185
T=Ala (17)

| G=Ser (1)

T=Tyr (17) | |del (14)

| 585 600 | ||-|

ACC GTT TAC AAT ATT GGT AAT TGC TTT GGA AAA AAT TTT TCA ATT GCC TAC AAC ATT GTA AAG ATC

TGG CAA ATG TTA TAA CCA TTA ACG AAA CCT TTT TTA AAA AGT TAA CGG ATG TTG TAA CAT TTC TAG

T V Y N I G N C F G K N F S I A Y N I V K I

Thr Val Tyr Asn Ile Gly Asn Cys Phe Gly Lys Asn Phe Ser Ile Ala Tyr Asn Ile Val Lys Ile

190 195 200 205
c (10)

| a (14)

630 643 | |

CCA CCA CTG CAA GCA G gtgag tttac caatc tgtcc tcttc tgaaa ataag tgtct atatt gtgag aaagt

GGT GGT GAC GTT CGT C cactc aaatg gttag acagg agaag acttt tattc acaga tataa cactc tttca

P P L Q A D <-

Pro Pro Leu Gln Ala Asp <------------

210 215
tactg tattg tgaga aaaaa taaga ggctg ttcca aagc...

atgac ataac actct ttttt attct ccgac aaggt ttcg...

---------------------c ----| RPE65-6r (15)

----------------| E6-R (2)
IVS 6
del (20) (1) t

RPE65-7f |del (20) c (20) |t

|---------------------------> || | ||

ctg ttcta aatgc tttgt attaa aaaaa aaata agagg ctgtt ccaat gcctt ttaaa accac tttat ttcag

gac aagat ttacg aaaca taatt ttttt tttat tctcc gacaa ggttt cggaa aattt tggtg aaata aagtc
G=Gly (3,14,15,25) T=ter

| 660 675 690 | 705

AC AAG GAA GAT CCA ATA AGC AAG TCA GAG ATC GTT GTA CAA TTC CCC TGC AGT GAC CGA TTC AAG

TG TTC CTT CTA GGT TAT TCG TTC AGT CTC TAG CAA CAT GTT AAG GGG ACG TCA CTG GCT AAG TTC

D K E D P I S K S E I V V Q F P C S D R F K

Asp Lys Glu Asp Pro Ile Ser Lys Ser Glu Ile Val Val Gln Phe Pro Cys Ser Asp Arg Phe Lys

215 220 225 230 235
T=Asp (23,24) g (14,17)

| 720 725 |

CCA TCT TAC GTT CAT AG gtaac ttgaa ggcct gctat gaatc ttcag gaaaa ctcaa gttta aagat ttgct

GGT AGA ATG CAA GTA TC cattg aactt ccgga cgata cttag aagtc ctttt gagtt caaat ttcta aacga

P S Y V H S <-------------------

Pro Ser Tyr Val His Ser

240 242
ttgcc tacct

aacgg atgga

--------| RPE65-7b
IVS 7
...tt gatac caatc ctgat cacaa tattt ttttg cagaa aacta aattt aaaca taatt aattt catgt aggca

...aa ctatg gttag gacta gtgtt ataaa aaaac gtctt ttgat ttaaa tttgt attaa ttaaa gtaca tccgt


RPE65-8a |-------------------------->

ctgtt gattc ttgta actga gcata ccaca tatat acaaa tttgt ctgtg gcttg agaat cagcc ctttc attca

gacaa ctaag aacat tgact cgtat ggtgt atata tgttt aaaca gacac cgaac tctta gtcgg gaaag taagt
726 735 750 765

caagc ccatt tgtgt ttctg aacag T TTT GGT CTG ACT CCC AAC TAT ATC GTT TTT GTG GAG ACA CCA

gttcg ggtaa acaca aagac ttgtc A AAA CCA GAC TGA GGG TTG ATA TAG CAA AAA CAC CTC TGT GGT

S F G L T P N Y I V F V E T P

Ser Phe Gly Leu Thr Pro Asn Tyr Ile Val Phe Val Glu Thr Pro

242 245 250 255


del (2,14)

|---------| 795 810 825

GTC AAA ATT AAC CTG TTC AAG TTC CTT TCT TCA TGG AGT CTT TGG GGA GCC AAC TAC ATG GAT TGT

CAG TTT TAA TTG GAC AAG TTC AAG GAA AGA AGT ACC TCA GAA ACC CCT CGG TTG ATG TAC CTA ACA

V K I N L F K F L S S W S L W G A N Y M D C

Val Lys Ile Asn Leu Phe Lys Phe Leu Ser Ser Trp Ser Leu Trp Gly Ala Asn Tyr Met Asp Cys

260 265 270 275
a (3)

t (2,14)

| g (8)

840 855 858 | |

TTT GAG TCC AAT GAA ACC ATG GGG gtaag tctta gatat atttg tcaag tttgt gattc tgaag aagat

AAA CTC AGG TTA CTT TGG TAC CCC cattc agaat ctata taaac agttc aaaca ctaag acttc ttcta

F E S N E T M G <----------

Phe Glu Ser Asn Glu Thr Met Gly

280 285 286
gtgtt taata atgta cac

cacaa attat tacat gtg

--------------------| RPE65-8b
IVS 8
|----------------------------> RPE65-9a

gt acact ttttt ccttt ttaaa tgcat caaaa tattt tcctc atttt tcaag

ca tgtga aaaaa ggaaa aattt acgta gtttt ataaa aggag taaaa agttc
C=Thr (1,14)

| del (17)



C=Phe (13) | | del (13) T=ter (8)

| 870 | 885 | | 900 | 915

GTT TGG CTT CAT ATT GCT GAC AAA AAA AGG AAA AAG TAC CTC AAT AAT AAA TAC AGA ACT TCT CCT

CAA ACC GAA GTA TAA CGA CTG TTT TTT TCC TTT TTC ATG GAG TTA TTA TTT ATG TCT TGA AGA GGA

V W L H I A D K K R K K Y L N N K Y R T S P

Val Trp Leu His Ile Ala Asp Lys Lys Arg Lys Lys Tyr Leu Asn Asn Lys Tyr Arg Thr Ser Pro

290 295 300 305
insA (1,23,24) T=Val (1)

A=Asn |G=Lys (17,13,14,21) | (26,3) Tyr=A

930 945 | 960 || 975 | |

TTC AAC CTC TTC CAT CAC ATC AAC ACC TAT GAA GAC AAT GGG TTT CTG ATT GTG GAT CTC TGC TGC

AAG TTG GAG AAG GTA GTG TAG TTG TGG ATA CTT CTG TTA CCC AAA GAC TAA CAC CTA GAG ACG ACG

F N L F H H I N T Y E D N G F L I V D L C C

Phe Asn Leu Phe His His Ile Asn Thr Tyr Glu Asp Asn Gly Phe Leu Ile Val Asp Leu Cys Cys

310 315 320 325 330
998

TGG AAA GG gtaag aaagg acact ggaca aatgg gacac ctccc attgt tcctg gaaat tacgg ggttt ttaca

ACC TTT CC cattc tttcc tgtga cctgt ttacc ctgtg gaggg taaca aggac cttta atgcc ccaaa aatgt

W K G <------------------------| RPE65-9b

Trp Lys Gly

333
gaggt tttta cagag ctgct gcact caatc tgaat cacat ctaaa acagc aagag ttatg tgaga gtcaa aaatg

ctcca aaaat gtctc gacga cgtga gttag actta gtgta gattt tgtcg ttctc aatac actct cagtt tttac
taatt ggaaa agcag tagga agttt aggta atctg aacat caaaa ctatg attaa tgatt gaaaa ctaat cgggt

attaa ccttt tcgtc atcct tcaaa tccat tagac ttgta gtttt gatac taatt actaa ctttt gatta gccca


ccacg aaccc cacct gaaaa caaaa gattc tgtga cctga gaggt gaact atttc aactg tttt

ggtgc ttggg gtgga ctttt gtttt ctaag acact ggact ctcca cttga taaag ttgac aaaa



IVS 9

|-----------------------> RPE65-10a

agaat catct ctcta aaatt atttg

tctta gtaga gagat tttaa taaac


(1)Ser=C

999 1005 1020 |

tcatt gcctg tgctc atgtt tgact tttta tttt tgcag A TTT GAG TTT GTT TAT AAT TAC TTA TAT TTA

agtaa cggac acgag tacaa actga aaaat aaaa acgtc T AAA CTC AAA CAA ATA TTA ATG AAT ATA AAT

G F E F V Y N Y L Y L

Gly Phe Glu Phe Val Tyr Asn Tyr Leu Tyr Leu

333 335 340


insTGG (6)

| G=Glu (15)

| | A=Glu (1,17)

| | | del (3,14,15)

| | | | ins1bp (13,23,24)

| | | | | C=Pro

| | | | | | A=Thr (2,14)

1035 |1050 | | | | | | 1095

GCC AAT TTA CGT GAG AAC TGG GAA GAG GTG AAA AAA AAT GCC AGA AAG GCT CCC CAA CCT GAA GTT

CGG TTA AAT GCA CTC TTG ACC CTT CTC CAC TTT TTT TTA CGG TCT TTC CGA GGG GTT GGA CTT CAA

A N L R E N W E E V K K N A R K A P Q P E V

Ala Asn Leu Arg Glu Asn Trp Glu Glu Val Lys Lys Asn Ala Arg Lys Ala Pro Gln Pro Glu Val

345 350 355 360 365
C=His (4,14)

|G=Cys del (11,25)

|| 1110 | 1128

AGG AGA TAT GTA CTT CCT TTG AAT ATT GAC AAG gtaac ctgct tctct gtaga tttca gattt aacca

TCC TCT ATA CAT GAA GGA AAC TTA TAA CTG TTC cattg gacga agaga catct aaagt ctaaa ttggt

R R Y V L P L N I D K <--

Arg Arg Tyr Val Leu Pro Leu Asn Ile Asp Lys

370 375 376


|---------------------------> RPE65-11a

gaatg tttca tctct ctcag IVS10 gttt gaatt ctttc ctgct cactg aggtt tctgt tatct tctct cctag

cttac aaagt agaga gagtc caaa cttaa gaaag gacga gtgac tccaa agaca ataga agaga ggatc

----------------------| RPE65-10b


A=Thr (1,17) G=Gly (13,23,24)

1131 1140 | 1170 | 1185

GCT GAC ACA GGC AAG AAT TTA GTC ACG CTC CCC AAT ACA ACT GCC ACT GCA ATT CTG TGC AGT GAC

CGA CTG TGT CCG TTC TTA AAT CAG TGC GAG GGG TTA TGT TGA CGG TGA CGT TAA GAC ACG TCA CTG

A D T G K N L V T L P N T T A T A I L C S D

Ala Asp Thr Gly Lys Asn Leu Val Thr Leu Pro Asn Thr Thr Ala Thr Ala Ile Leu Cys Ser Asp

377 380 385 390 395
T=Pro C=Ala (1)

dup (1) | C=Pro

1200 || | 1215 | | 1230 1243

GAG ACT ATC TGG CTG GAG CCT GAA GTT CTC TTT TCA GGG CCT CGT CAA G gtgag atgat ctaga gaaaa

CTC TGA TAG ACC GAC CTC GGA CTT CAA GAG AAA AGT CCC GGA GCA GTT C cactc tacta gatct ctttt

E T I W L E P E V L F S G P R Q A

Glu Thr Ile Trp Leu Glu Pro Glu Val Leu Phe Ser Gly Pro Arg Gln Ala

400 405 410 415
|-------------------------> RPE65-12a

cttca cacgg gagtg aacaa atgtt tcttt caaag agatt aaga gtttt cctaa gcatg tgctc tattt cgtag

gaagt gtgcc ctcac ttgtt tacaa agaaa gtttc tctaa ttct caaaa ggatt cgtac acgag ataaa gcatc

<--------------------------| RPE65-11b
G=Cys (14) Val=T

| (27) Cys=G |

| (1) Ala=C | |

C=Gln (17) | (1,3)Val=T | | |

1245 | 1260 1275 1290 | | | | |

CA TTT GAG TTT CCT CAA ATC AAT TAC CAG AAG TAT TGT GGG AAA CCT TAC ACA TAT GCG TAT GGA

GT AAA CTC AAA GGA GTT TAG TTA ATG GTC TTC ATA ACA CCC TTT GGA ATG TGT ATA CGC ATA CCT

A F E F P Q I N Y Q K Y C G K P Y T Y A Y G

Ala Phe Glu Phe Pro Gln Ile Asn Tyr Gln Lys Tyr Cys Gly Lys Pro Tyr Thr Tyr Ala Tyr Gly

415 420 425 430 435
c (1)

1320 1338 |

CTT GGC TTG AAT CAC TTT GTT CCA GAT AGG gtaat taatc cttct tacta atatt tgaac agtgc tttga

GAA CCG AAC TTA GTG AAA CAA GGT CTA TCC catta attag gaaga atgat tataa acttg tcacg aaact

L G L N H F V P D R

Leu Gly Leu Asn His Phe Val Pro Asp Arg

440 445 446
IVS 12
|---------------------------> RPE65-13a

gtata tgcta gtcaa gtaaa gcata ttgac tgatt gcttg attga ttttt ctttc tcaca aacag

catat acgat cagtt cattt cgtat aactg actaa cgaac taact aaaaa gaaag agtgt ttgtc

<---------------------------| RPE65-12b
T=Arg (12) A=Asn (4,14)

| G=Gly (1) | T=ter (13)

1341 | | 1365 | 1380 | 1395

CTC TGT AAG CTG AAT GTC AAA ACT AAA GAA ACT TGG GTT TGG CAA GAG CCT GAT TCA TAC CCA TCA

GAG ACA TTC GAC TTA CAG TTT TGA TTT CTT TGA ACC CAA ACC GTT CTC GGA CTA AGT ATG GGT AGT

L C K L N V K T K E T W V W Q E P D S Y P S

Leu Cys Lys Leu Asn Val Lys Thr Lys Glu Thr Trp Val Trp Gln Glu Pro Asp Ser Tyr Pro Ser

447 450 455 460 465


A=Asp (1,3,23,24)

1410 | 1425 1440 1450

GAA CCC ATC TTT GTT TCT CAC CCA GAT GCC TTG GAA GAA GAT GAT G gtaat gaaag caatt gttgt

CTT GGG TAG AAA CAA AGA GTG GGT CTA CGG AAC CTT CTT CTA CTA C catta ctttc gttaa caaca

E P I F V S H P D A L E E D D G

Glu Pro Ile Phe Val Ser His Pro Asp Ala Leu Glu Glu Asp Asp Gly

470 475 480 484
gtctg aatac tcttc ttact gcagt tctgt atgtt agttc agtag gaaag gagta aggtt gatta ttccg taata

cagac ttatg agaag aatga cgtca agaca tacaa tcaag tcatc ctttc ctcat tccaa ctaat aaggc attat



<---------------------------| RPE65-13b
ctcaa aaacg atcct taata ctata aatag agcag tactg aagaa ttaaa actat ttgaa

gagtt tttgc tagga attat gatat ttatc tcgag atgac ttctt aattt tgata aactt


IVS 13
tca gaaaa agaag tcagg tcata tggtt ttcta atttg tcaat gtaat acctc ctata

agt ctttt tcttc agtcc agtat accaa aagat taaac agtta catta tggag gatat


t (17)

|---------------------------> RPE65-14 |

ttatt tcaat gacat tcaat ctata gcttg ggctt ttaaa aactc aatat tgcct aattt acttc tgata aacag

aataa agtta ctgta agtta gatat cgaac ccgaa aattt ttgag ttata acgga ttaaa tgaag actat ttgtc


A=Asp

| 1455 1470 1485 1500 1515

GT GTA GTT CTG AGT GTG GTG GTG AGC CCA GGA GCA GGA CAA AAG CCT GCT TAT CTC CTG ATT CTG

CA CAT CAA GAC TCA CAC CAC CAC TCG GGT CCT CGT CCT GTT TTC GGA CGA ATA GAG GAC TAA GAC

G V V L S V V V S P G A G Q K P A Y L L I L

Gly Val Val Leu Ser Val Val Val Ser Pro Gly Ala Gly Gln Lys Pro Ala Tyr Leu Leu Ile Leu

485 490 495 500 505
T=Trp (12) C=Thr

1530 | | 1575

AAT GCC AAG GAC TTA AGT GAA GTT GCC CGG GCT GAA GTG GAG ATT AAC ATC CCT GTC ACC TTT CAT

TTA CGG TTC CTG AAT TCA CTT CAA CGG GCC CGA CTT CAC CTC TAA TTG TAG GGA CAG TGG AAA GTA

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

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

510 515 520 525
T=Val del

| | 1602 1622 1632 1642 1652 1662

GGA CTG TTC AAA AAA TCT TGA gcata ctcca gcaag atatg ttttt ggtag caaaa ctgag aaaat cagct

CCT GAC AAG TTT TTT AGA ACT cgtat gaggt cgttc tatac aaaaa ccatc gtttt gactc tttta gtcga

G L F K K S * <----------

Gly Leu Phe Lys Lys Ser *

530 533
1672 1682 1692 1702 1712 1722 1732

tcagg tctgc aatca aattc tgttc aattt tagcc tgcta tatgt catgg tttta acttg cagat gcgca caatt

agtcc agacg ttagt ttaag acaag ttaaa atcgg acgat ataca gtacc aaaat tgaac gtcta cgcgt gttaa

----------------| RPE65-14b


1742 1752 1762 1772 1782 1792 1802 1812

ttgca atgtt ttaca gaaag cactg agttg agcaa gcaat tcctt tattt aaaaa aaaaa gtacg tattt agata

aacgt tacaa aatgt ctttc gtgac tcaac tcgtt cgtta aggaa ataaa ttttt ttttt catgc ataaa tctat
1822 1832 1842 1852 1862 1872 1882

atcat acttc ctctg tgaga caggc cataa ctgaa aaact cttaa atatt tagca atcaa atagg aaatg aatgt

tagta tgaag gagac actct gtccg gtatt gactt tttga gaatt tataa atcgt tagtt tatcc tttac ttaca
1892 1902 1912 1922 1932 1942 1952 1962

ggact tacta aatgg ctttt aattc ctatt ataag agcat atttt aggta cctat ctgct ccaat tatat tttta

cctga atgat ttacc gaaaa ttaag gataa tattc tcgta taaaa tccat ggata gacga ggtta atata aaaat
1972 1982 1992 2002 2012 2022 2032

acatt taaaa accaa agtcc tctac acttg attta tatta tatgt ggctt tgctg agtca aggaa gtatc atgca

tgtaa atttt tggtt tcagg agatg tgaac taaat ataat ataca ccgaa acgac tcagt tcctt catag tacgt
2042 2052 2062 2072 2082 2092 2102 2112

ataag gctta attac taaat gtcaa accaa acttt ttctc aaacc aggga ctatc atcta agatt aatta cagta

tattc cgaat taatg attta cagtt tggtt tgaaa aagag tttgg tccct gatag tagat tctaa ttaat gtcat
2132 2142 2152 2162 2172 2182 2192

attat tttgc gtata cgtaa ctgct caaag attat gaatc ttatg aatgt taacc tttcc gttta ttaca agcaa

taata aaacg catat gcatt gacga gtttc taata cttag aatac ttaca attgg aaagg caaat aatgt tcgtt
2202 2212 2232 2242 2252 2262 2272 2282

gtact attat ttctg atttt ataat aagaa aatct atgtt taatc aactg aggcc tctca accaa ataac atctc

catga taata aagac taaaa tatta ttctt ttaga tacaa attag ttgac tccgg agagt tggtt tattg tagag
2292 2302 2312 2322 2342 2352 2362

agaga ttaag ttata tatta aaagc ttatg taaca taaaa gcaag tacat atagt agtga ctata tttaa aaaaa

tctct aattc aatat ataat tttcg aatac attgt atttt cgttc atgta tatca tcact gatat aaatt ttttt
2372 2382 2392 2402 2412 2422 2432 2442

cagag cataa aatgc ttaaa aatgt aatat ttact aaaat cagat tatgg gataa tgttg cagga ttata cttta

gtctc gtatt ttacg aattt ttaca ttata aatga tttta gtcta atacc ctatt acaac gtcct aatat gaaat
2452 2462 2472 2492 2482 2492 2502

ttgca tcttt tttgt ttaat tgtat ttaag cattg tgcaa tcact tggga aaaat attaa attat taaca ttgag

aacgt agaaa aaaca aatta acata aattc gtaac acgtt agtga accct tttta taatt taata attgt aactc
2512 2522 2532 2542 2562 2572 2582 2592

gtatt aatac atttt aagcc ttttg ttttt aaatt tcttt tgttc cagag attgt ttaaa aataa atatt gacaa

cataa ttatg taaaa ttcgg aaaac aaaaa tttaa agaaa acaag gtctc taaca aattt ttatt tataa ctgtt
2602 2612 2622 2642 2652 2662

aaata atgtt ttata tctta attct agtat ctgtt ttatg cttga aagca ttaca gatca tgata c

tttat tacaa aatat agaat taaga tcata gacaa aatac gaact ttcgt aatgt ctagt actat g


(1)=(1)

(2)=(2)

(3)=(3)

(4)=(4)

(5)=(5)

(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)

(25)=(25)

(26)=(26)

(27)=(27)


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