Human tyrosinase



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Last update: 11.05.2010


Human tyrosinase Gene


According to NW_001838029.2 and sequencing results from the editors laboratory

Nucleotide numbering is given in Blue

Aminoacid numbering is given in green

Colour coding of the mutations indicates the following disorders

|OCA1A |OCA1B |OCA2 |Polymorphism OCA1/2 OCA1A/B OCA1TS* OA/OCA

Numbers in brackets indicate the references at the end of the document

Mutations have been adjusted to the most recent nucleotide and codon numbering starting with 1 at the first nucleotide of the initiating Methionine.

Functional units

C =Copper-binding domain 1

K =Copper-binding domain 2

P =polymorphic di-nucleotide repeat (23)

S =Signalpeptide


*temperature sensitive
-990 -980 -970 -960 -950 -940 -930 -920

tctag aattg atagg aaaaa caata tggct acagc attgg agaga gagag aaagg agaga ggaga aagga gagag

agatc ttaac tatcc ttttt gttat accga tgtcg taacc tctct ctctc tttcc tctct cctct ttcct ctctc

PPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPP


del (22)

-910 -900 -890 -880 -870 | -850 -840

agaga aagga gagag gagag agaca gagga gagag agaga ggata gaggg ggaga gagag agagg agaga gacag

tctct ttcct ctctc ctctc tctgt ctcct ctctc tctct cctat ctccc cctct ctctc tctcc tctct ctgtc

PPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPP
ins gagagggaga (22)

-830 -820 -810 |-800 -790 -780 -770

aggag agaga gagag gatag agggg agaga gaggg agagg gagag agagg gagag agagg gagag agaga gagag

tcctc tctct ctctc ctatc tcccc tctct ctccc tctcc ctctc tctcc ctctc tctcc ctctc tctct ctctc

PPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPP
ins c(22)

-760 -750 -740 -730 -720 -710 -700 |

agagg gagag agaga gagaa agaga gagag aggga gagag agaga gagag ctctt taacg tgaga tatcc cacaa

tctcc ctctc tctct ctctt tctct ctctc tccct ctctc tctct ctctc gagaa attgc actct atagg gtgtt

PPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPPP (23)
ins g (22) del (22)

| -680 -670 | -650 -640 -630 -620

tgaac aaatc gccca gttat caaag tgcag ctatc cttag gagtt gtcag aaaat gcatc aggat tatca gagaa

acttg tttag cgggt caata gtttc acgtc gatag gaatc ctcaa cagtc tttta cgtag tccta atagt ctctt


-610 -600 -590 -580 -570 -560 -550 -540

aagta tcaga aagat ttttt tttct gatac gttgt ataaa ataaa caaac tgaaa ttcaa taaca tataa ggaat

ttcat agtct ttcta aaaaa aaaga ctatg caaca tattt tattt gtttg acttt aagtt attgt atatt cctta
-530 -520 -510 -500 -490 -480 -470

tctgt ctggg ctctg aagac aatct ctctc tgcat attga ttctt caaac attgt agcct cttta tggtc tctga

agaca gaccc gagac ttctg ttaga gagag acgta taact aagaa gtttg taaca tcgga gaaat accag agact
-460 -450 -440 -430 -420 -410 -400 -390

gaaat aacta cctta aaccc ataat cttta atact tccta aactt tctta ataag agaag ctcta ttcct gacac

cttta ttgat ggaat ttggg tatta gaaat tatga aggat ttgaa agaat tattc tcttc gagat aagga ctgtg
-380 -370 -360 -350 -340 -330 -320

tacct ctcat ttgca aggtc aaatc atcat tagtt ttgta gtcta ttaac tgggt ttgct taggt caggc attat

atgga gagta aacgt tccag tttag tagta atcaa aacat cagat aattg accca aacga atcca gtccg taata
t (18) c (29)

-310 | -300 -290 -280 -270 | -250 -240

tatta ctaac cttat tgtta atatt ctaac cataa gaatt aaact attaa tggtg aatag agttt ttcac tttaa

ataat gattg gaata acaat tataa gattg gtatt cttaa tttga taatt accac ttatc tcaaa aagtg aaatt


a (18,58)

-230 -220 -210 | -190 -180 -170

catag gccta tccca ctggt gggat acgag ccaat tcgaa agaaa agtca gtcat gtgct tttca gagga tgaaa

gtatc cggat agggt gacca cccta tgctc ggtta agctt tcttt tcagt cagta cacga aaagt ctcct acttt


-160 -150 -140 -130 -120 -110 -100 -90

gctta agata aagac taaaa gtgtt tgatg ctgga ggtgg gagtg gtatt atata ggtct cagcc aagac atgtg

cgaat tctat ttctg atttt cacaa actac gacct ccacc ctcac cataa tatat ccaga gtcgg ttctg tacac
-80 -70 -60 -50 -40 -30 -20

ataat cactg tagta gtagc tggaa agaga aatct gtgac tccaa ttagc cagtt cctgc agacc ttgtg aggac

tatta gtgac atcat catcg acctt tctct ttaga cactg aggtt aatcg gtcaa ggacg tctgg aacac tcctg
>del Exon (24), del Gene (34,68) del (41)

G=Val (21,25,33,50,30,92) | (2) Gln=A

|C=Thr ( ) del (1,44) | (34) Arg=G|

a (db)| T=Leu (db) |C=Pro (50) |(2) del ||

-10 | | | 15 || 30 45 | | || 60

tagag gaaga ATG CTC CTG GCT GTT TTG TAC TGC CTG CTG TGG AGT TTC CAG ACC TCC GCT GGC CAT TTC

atctc cttct TAC GAG GAC CGA CAA AAC ATG ACG GAC GAC ACC TCA AAG GTC TGG AGG CGA CCG GTA AAG

Met Leu Leu Ala Val Leu Tyr Cys Leu Leu Trp Ser Phe Gln Thr Ser Ala Gly His Phe

M L L A V L Y C L L W S F Q T S A G H F

SSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSSS

1 5 10 15 20
(11,3,4,28,61) Gly=G

(44) del|

((41) Asn=A|

(93,50) Arg=A ||

(93) Cys=C | ||

(50) ter=A| | ||

T=Ser (3,4,18,28,33) (93) Arg=A|| | ||

| C=Arg (93) (db) Pro=A ||| | ||

| |A=Tyr (80,93) (db) Thr=A | ||| | ||

| || T=Phe (62) (5) Tyr=A | | ||| | ||

| || | insT (50,62,92) C=Thr (34) | | | ||| (50)| ||

| || | | 90 | 105 | | | ||| 120 | ||

CCT AGA GCC TGT GTC TCC TCT AAG AAC CTG ATG GAG AAG GAA TGC TGT CCA CCG TGG AGC GGG GAC AGG

GGA TCT CGG ACA CAG AGG AGA TTC TTG GAC TAC CTC TTC CTT ACG ACA GGT GGC ACC TCG CCC CTG TCC

Pro Arg Ala Cys Val Ser Ser Lys Asn Leu Met Glu Lys Glu Cys Cys Pro Pro Trp Ser Gly Asp Arg

P R A C V S S K N L M E K E C C P P W S G D R

25 30 35 40
C=Arg (62)

G=Gly (62)

| A=Thr(43)

| | T=Val (62)

| | |A=Asp(3,4,6,18,28,62,44,67,92)

| | || G=ter (7) A=Tyr (3,4,8,26,21,18,28,44,50,93)

| | || | |

| | || | T=Ile (2) | T=His (db) T=Leu (db)

| | || | | | | | 195

AGT CCC TGT GGC CAG CTT TCA GGC AGA GGT TCC TGT CAG AAT ATC CTT CTG TCC AAT GCA CCA CTT GGG

TCA GGG ACA CCG GTC GAA AGT CCG TCT CCA AGG ACA GTC TTA TAG GAA GAC AGG TTA CGT GGT GAA CCC

Ser Pro Cys Gly Gln Leu Ser Gly Arg Gly Ser Cys Gln Asn Ile Leu Leu Ser Asn Ala Pro Leu Gly

S P C G Q L S G R G S C Q N I L L S N A P L G

45 50 55 60 65


del (2)

| G=Glu (33)

| | T=Trp (1,2,50,44,5,93)

| | G=Gly (93)

| | |A=Gln (3,4,5,9,18,28,30,33,8,84,93)

| | |insGGG (8,80,93)

| | || T=ter (1)

| | || | C= Pro (50)

| | || | |T=Leu (62)

| | || | || C=Arg (1,50,44) (28,18,3,4,16) Arg=C

| | || | || | A=ter (2,20) |

| | || | || | | T=Ser (50) |

| | || | || | | |T=Leu (1,6,10,18,28,34,54,84) |

| | || | || | | || G=Val (44) |

T=His (62) | | || | || | | || | G=ter (81,84) |

| 210 | | || | || | | || | | |

CCT CAA TTT CCC TTC ACA GGG GTG GAT GAC CGG GAG TCG TGG CCT TCC GTC TTT TAT AAT AGG ACC TGC

GGA GTT AAA GGG AAG TGT CCC CAC CTA CTG GCC CTC AGC ACC GGA AGG CAG AAA ATA TTA TCC TGG ACG

Pro Gln Phe Pro Phe Thr Gly Val Asp Asp Arg Glu Ser Trp Pro Ser Val Phe Tyr Asn Arg Thr Cys

P Q F P F T G V D D R E S W P S V F Y N R T C

70 75 80 85
insA (3,4,18,28,59)

G=Arg (db) | A=Arg (2,5) T=Phe (93)

| C=Ser (30,41) | |T=Val (90) |G=Trp (93) A=Arg (50) A=Arg (20)

| | 285 | || || 315 | | 330

CAG TGC TCT GGC AAC TTC ATG GGA TTC AAC TGT GGA AAC TGC AAG TTT GGC TTT TGG GGA CCA AAC TGC

GTC ACG AGA CCG TTG AAG TAC CCT AAG TTG ACA CCT TTG ACG TTC AAA CCG AAA ACC CCT GGT TTG ACG

Gln Cys Ser Gly Asn Phe Met Gly Phe Asn Cys Gly Asn Cys Lys Phe Gly Phe Trp Gly Pro Asn Cys

Q C S G N F M G F N C G N C K F G F W G P N C

90 95 100 105 110
del (20,44,53) C=Thr (44)

|| del (2-5) | A=Gly (84) G=Glu (30)

|| || T=ter (2,50,62,80,93) | T=Tyr ( ) A=Ala (db)| A=Lys (db)G=Cys(db)

|| || | 360 | | | 390 | | | 405

ACA GAG AGA CGA CTC TTG GTG AGA AGA AAC ATC TTC GAT TTG AGT GCC CCA GAG AAG GAC AAA TTT TTT

TGT CTC TCT GCT GAG AAC CAC TCT TCT TTG TAG AAG CTA AAC TCA CGG GGT CTC TTC CTG TTT AAA AAA

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

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

115 120 125 130 135
T=Ser (4,7)

T=Met (93) | insT (5)

|T=Asn (db) G=Cys (44) | | T=Ser (62)

420 || 435 | 450 | | |

GCC TAC CTC ACT TTA GCA AAG CAT ACC ATC AGC TCA GAC TAT GTC ATC CCC ATA GGG ACC TAT GGC CAA

CGG ATG GAG TGA AAT CGT TTC GTA TGG TAG TCG AGT CTG ATA CAG TAG GGG TAT CCC TGG ATA CCG GTT

Ala Tyr Leu Thr Leu Ala Lys His Thr Ile Ser Ser Asp Tyr Val Ile Pro Ile Gly Thr Tyr Gly Gln

A Y L T L A K H T I S S D Y V I P I G T Y G Q

140 145 150 155
(44) Cys=G

(62) Asn=A |

(62) Leu=C | |

(3,4,14,18) ter=A | | |

(62) Phe=T | | | |

(3,4,6,18) Ile=A | | | | |

G=ter (34) del (34) | | | | | |

480 | 495 |-| 510 525 | | | | | |

ATG AAA AAT GGA TCA ACA CCC ATG TTT AAC GAC ATC AAT ATT TAT GAC CTC TTT GTC TGG ATG CAT TAT

TAC TTT TTA CCT AGT TGT GGG TAC AAA TTG CTG TAG TTA TAA ATA CTG GAG AAA CAG ACC TAC GTA ATA

Met Lys Asn Gly Ser Thr Pro Met Phe Asn Asp Ile Asn Ile Tyr Asp Leu Phe Val Trp Met His Tyr

M K N G S T P M F N D I N I Y D L F V W M H Y

160 165 170 175 180
del (3,4,5,18,59)

|del(34,50)

|| A=Tyr (3,4,5,18,21,28,84

|| | del (50)

|| | || A=Asn (62)

|| | || | del (62)

G=Val (93) || | || | T=Ser (62)

| || | 585 || | 600 |

TAT GTG TCA ATG GAT GCA CTG CTT GGG GGA TCT GAA ATC TGG AGA GAC ATT GAT TTT GCC CAT GAA GCA

ATA CAC AGT TAC CTA CGT GAC GAA CCC CCT AGA CTT TAG ACC TCT CTG TAA CTA AAA CGG GTA CTT CGT

Tyr Val Ser Met Asp Ala Leu Leu Gly Gly Ser Glu Ile Trp Arg Asp Ile Asp Phe Ala His Glu Ala

Y V S M D A L L G G S E I W R D I D F A H E A

CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC

185 190 195 200


A=Met (3,4,6,18,28)

| T=Trp (3,4,5,13,18,28,92)

| G=Gly (1,17,44)

A=Thr (20,44,50) | TC=Ser (62)

| A=Thr (3,4,11,18,28,33) | del (4,5,7,44,92)

| | G=Thr (50) | |A=Gln (3,4,5,18,33)

| | T=Leu (44) | || T=ter (34)

| | | G=Arg (93) | || A=Lys (41)

| | | | C=Thr (93) | || | A=Lys (50) (33,20) del

| | | | A=Lys (50) | || | | C=Thr (33) | |

| | | 630 | | 645 | || | 660 | | 675 |--|

CCA GCT TTT CTG CCT TGG CAT AGA CTC TTC TTG TTG CGG TGG GAA CAA GAA ATC CAG AAG CTG ACA GGA

GGT CGA AAA GAC GGA ACC GTA TCT GAG AAG AAC AAC GCC ACC CTT GTT CTT TAG GTC TTC GAC TGT CCT

Pro Ala Phe Leu Pro Trp His Arg Leu Phe Leu Leu Arg Trp Glu Gln Glu Ile Gln Lys Leu Thr Gly

P A F L P W H R L F L L R W E Q E I Q K L T G

CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC

205 210 215 220 225
C=His (93)

| C=Arg (93)

| |T=Leu (62)

| |C=Ser (5)

| |A=ter (3,4,6,18,28)

| || T=Trp (31,50,74,84)

| || |A=Gln (db)

| || || T=Val (62)

| || || | C=Thr (2)

| || || | | del (3,4,5,24,18,28,34)

| || || | | | | (93) Gly=G

690 | || || | | | | | 750

GAT GAA AAC TTC ACT ATT CCA TAT TGG GAC TGG CGG GAT GCA GAA AAG TGT GAC ATT TGC ACA GAT GAG

CTA CTT TTG AAG TGA TAA GGT ATA ACC CTG ACC GCC CTA CGT CTT TTC ACA CTG TAA ACG TGT CTA CTC

Asp Glu Asn Phe Thr Ile Pro Tyr Trp Asp Trp Arg Asp Ala Glu Lys Cys Asp Ile Cys Thr Asp Glu

D E N F T I P Y W D W R D A E K C D I C T D E

CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC

230 235 240 245 250


A=Arg (1)

|A=Glu (50,93) (84,42,5) Cys=C

|| T=ter (33) A=Thr (db) |

|| | T=Tyr (20,62,80) T=Leu (db) A=Ile (db) | Pro (92?) |

|| | | | | 795 | | 810 | 819

TAC ATG GGA GGT CAG CAC CCC ACA AAT CCT AAC TTA CTC AGC CCA GCA TCA TTC TTC TCC TCT TGG CAG

ATG TAC CCT CCA GTC GTG GGG TGT TTA GGA TTG AAT GAG TCG GGT CGT AGT AAG AAG AGG AGA ACC GTC

Tyr Met Gly Gly Gln His Pro Thr Asn Pro Asn Leu Leu Ser Pro Ala Ser Phe Phe Ser Ser Trp Gln

Y M G G Q H P T N P N L L S P A S F F S S W Q

CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC

255 260 265 270 273
gtaag atatg ctaga tatacg atgtc agagt aggga ggaac cttaa caatc acttc ttcag gcagg gtata aactt

cattc tatac gatct atatgc tacag tctca tccct ccttg gaatt gttag tgaag aagtc cgtcc catat ttgaa


IVS 1 (12277 bp)
gaagt ctaac aacga taatt aggag ttcca acatt tctgc cttct cctac tgact cagtg gtggt gacaa tttgt

cttca gattg ttgct attaa tcctc aaggt tgtaa agacg gaaga ggatg actga gtcac cacca ctgtt aaaca


g (8,50,52,80,93)

|del (62 )

||TG(34) (50) Tyr=A

||| | del (34,62) (62,8,2,5) Arg=C|

||| | T=Phe (1,3,14,18,28,34,20,50) (8) Gly=G|

||| | | A=Tyr (33) (29) Ser=C ||

||| | | | T=ter (4,7,13,28,30,36,41,50,74,89,90) | ||

||| | | | | C=Leu (db) | ||

||| | | | | | del (5) (8) del ||

||| | | | | | |del (62) || ||

||| | | | | | || T=Ile (db)(28,15) del ||

||820 | | | | || | 865 || ||

ttaac atgag ggtgt tttgt acag ATT GTC TGT AGC CGA TTG GAG GAG TAC AAC AGC CAT CAG TCT TTA TGC

aattg tactc ccaca aaaca tgtc TAA CAG ACA TCG GCT AAC CTC CTC ATG TTG TCG GTA GTC AGA AAT ACG

Ile Val Cys Ser Arg Leu Glu Glu Tyr Asn Ser His Gln Ser Leu Cys

I V C S R L E E Y N S H Q S L C

CCCCCCCCCCCCCCCCCCC

274 275 280 285


T=Met (db)

| A=Lys (5,7,20,92)

| G=Gly (5)

| | A=Arg (30)

| | | G=Leu (db)

| | | | T=Cys (33,93)

| | | | A=Ser (1,8,18,18,50,93)

| | | | |A=His (3,4,7,12,15,18,28,44,80,81,93)

| | | | || (2) Val=G

| | | | || (93,80,90,74,31,28,18,3,4,8,12,15,19)insC |

| | | | || A=Glu (33) | |

| | | | || (50) del | | |

| | | | || |---|| (db) Thr=C | |

870 | | | | || 900 | || | | |

AAT GGA ACG CCC GAG GGA CCT TTA CGG CGT AAT CCT GGA AAC CAT GAC AAA TCC AGA ACC CCA AGG CTC

TTA CCT TGC GGG CTC CCT GGA AAT GCC GCA TTA GGA CCT TTG GTA CTG TTT AGG TCT TGG GGT TCC GAG

Asn Gly Thr Pro Glu Gly Pro Leu Arg Arg Asn Pro Gly Asn His Asp Lys Ser Arg Thr Pro Arg Leu

N G T P E G P L R R N P G N H D K S R T P R L

290 295 300 305 310
G=Ala (1,44)

| T=ter (41)

| | G=Cys (50)

| | | C=Gln (4,13,28)

G=Arg (2) | | | | C=Pro (84,81,62)

|--del---| (72) A=Glu (62) | | | | | G=Thr (50,62)

|| | | T=Phe (84) | | | | | |A=Ile (33)

|| | | 960 | | | | | | 990 || 1005

CCC TCT TCA GCT GAT GTA GAA TTT TGC CTG AGT TTG ACC CAA TAT GAA TCT GGT TCC ATG GAT AAA GCT

GGG AGA AGT CGA CTA CAT CTT AAA ACG GAC TCA AAC TGG GTT ATA CTT AGA CCA AGG TAC CTA TTT CGA

Pro Ser Ser Ala Asp Val Glu Phe Cys Leu Ser Leu Thr Gln Tyr Glu Ser Gly Ser Met Asp Lys Ala

P S S A D V E F C L S L T Q Y E S G S M D K A

315 320 325 330 335
G=Gly (62)

G=Gly (1,20) | T=ter (29,50,84)

| C=Leu (2) A=Asn (81) | | g (50)

| | | | |1036

GCC AAT TTC AGC TTT AGA AAT ACA CTG GAA G gtaat ctctt tcttt tcact tttaa ttttt tttct gaatt

CGG TTA AAG TCG AAA TCT TTA TGT GAC CTT C catta gagaa agaaa agtga aaatt aaaaa aaaga cttaa

Ala Asn Phe Ser Phe Arg Asn Thr Leu Glu Gly

A N F S F R N T L E G

340 345 346
catat ttaca gtctc ttatc caaag tccta ggagg tattt gagaa ttcag aattt tctga gttga ccaag aatat

gtata aatgt cagag aatag gtttc aggat cctcc ataaa ctctt aagtc ttaaa agact caact ggttc ttata


IVS 2 (36158 bp)

ataat tataa

ctcaa tacgg aatga atttt atttt tgatt ttata ttttg aaaca gtctt caagt tatag ttata aatca aatgg

gagtt atgcc ttact taaaa taaaa actaa aatat aaaac tttgt cagaa gttca atatc aatat ttagt ttacc


(92,1,5,7,33,28,43,44,68,74) a

(93,15,55,90) del—t|

|-| |

| | | a (1,43)



| | | | T=Val (30)

| | | | A=Glu (29,81)

atc | | | | |

gataa tcaca taggt tttca gtcat taaag taaac atatt ttttt cattt ttttt taatg aacag GA TTT GCT

ctatt agtgt atcca aaagt cagta atttc atttg tataa aaaaa gtaaa aaaaa attac ttgtc CT AAA CGA

Gly Phe Ala

G F A

346



C=Pro (1,4,5,28,20)

| T=ter (1,62,44) (28,18,3,4,6) Thr=C

| |T=Leu (33,81) (27,18,5)Tyr=T|

| || A=Gly (81) (84) Ile=A ||

| || | C=Arg (62) (25) Thr=C| ||

| || | | T=Tyr (62) (50) Cys=G || ||

|A=Glu (29) || | | | (3) Arg=G | || ||

||A=Ala (29) || | | | (25) Tyr=T| | || ||

1050 ||| || | | | 1095 || | || ||

AGT CCA CTT ACT GGG ATA GCG GAT GCC TCT CAA AGC AGC ATG CAC AAT GCC TTG CAC ATC TAT ATG AAT

TCA GGT GAA TGA CCC TAT CGC CTA CGG AGA GTT TCG TCG TAC GTG TTA CGG AAC GTG TAG ATA TAC TTA

Ser Pro Leu Thr Gly Ile Ala Asp Ala Ser Gln Ser Ser Met His Asn Ala Leu His Ile Tyr Met Asn

S P L T G I A D A S Q S S M H N A L H I Y M N

KKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKK

350 355 360 365 370
A=Arg (41)

| A=Lys (1,3-5,7,28,33,34,43,44,50,57,62,70,92)

| | T=ter (4,28,13)

| | | C=Ala (84)

| | | | A=Lys (62)

| | | | T=ter (3,18,28,88)

| | | | | T=Gly (62)

| | | | | | C=Pro (1,28,44,59)

| | | | | | | A=Lys (3,4,18,28,93)

| | | | | | | | A=Asn (3,4,15,,18,20,28,33,43,50,62,70,74,84)

| | | | | | | | | del (3)

| | | | | | | | | | del (5,12,28,62,44)

| | | | | | | | | | | T=His (db)

| | | | | | | | | | | |ins T (62)

| | | | | | | | | | | ||G=Asp (1,4,28,43)

| | | | | | | | | | | ||| (62) del

| | | | | | | | | | | |||62,29) Phe=T |

| | | | | | | | | | | ||| G=Glu 50| |

| | | | | | | | | | | ||| | 50 del| |

| | 1125 | | | | | | | 1155 | | ||| | | | |

GGA ACA ATG TCC CAG GTA CAG GGA TCT GCC AAC GAT CCT ATC TTC CTT CTT CAC CAT GCA TTT GTT GAC

CCT TGT TAC AGG GTC CAT GTC CCT AGA CGG TTG CTA GGA TAG AAG GAA GAA GTG GTA CGT AAA CAA CTG

Gly Thr Met Ser Gln Val Gln Gly Ser Ala Asn Asp Pro Ile Phe Leu Leu His His Ala Phe Val Asp

G T M S Q V Q G S A N D P I F L L H H A F V D

KKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKK

375 380 385 390


C=Arg (44)

|A=Asn (1,44)

|| g (62)

||1184


AG gttgg ttaat atttc tttat aaata acgtg ctcat tggat ttaaa tagaa ggtgc ctatc aaatg tgatt taagt

TC caacc aatta taaag aaata tttat tgcac gagta accta aattt atctt ccacg gatag tttac actaa attca

Ser

S

KKK



395
IVS 3 (53131 bp)

del exon 4-5 (41)

tatgc cttat tttac tttaa aaatt ttcaa atgtt tcttt

atacg gaata aaatg aaatt tttaa aagtt tacaa agaaa


(93,2) Pro=C

(62) Asn =A

(62,28,18,3,4,5) Ser=T ||

(81) del | ||

(92,91,84,78,77,56,44,27,25,34,28,18,21,3,4) Gln=A | | ||

(62) Arg=C | | ||

(62) Leu=T | | ||

(29) Gly=G| | | ||

(93,92,43,44,84,81,62,28,4,5,7,) ter=T| | | ||

(34) Cys=T || | | ||

(93,8,80,62) Leu=T| || | | ||

t (34) || || | | ||

| (62) Val=T || || | | ||

| (44) Ala=C || || | | ||

| (30) Gly=G || || | | ||

| | || || | | ||

1185 | || || | | ||

tatac acaat atgtt tctta gtctg aataa ccttt tcctc tgcag T ATT TTT GAG CAG TGG CTC CGA AGG CAC

atatg tgtta tacaa agaat cagac ttatt ggaaa aggag acgtc A TAA AAA CTC GTC ACC GAG GCT TCC GTG

Ser Ile Phe Glu Gln Trp Leu Arg Arg His

S I F E Q W L R R H

KKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKKK

395 400
T=Ser (62)

| A=His (62)

| | A=Arg (3,4,5,18,30,93)

T=Leu (62) | | | T=Trp (50)

| Pseudogene? | | | |A=Gln (3-5,16,18,28,33,

| T=Leu(3,4,5,18,28,33,34,40,77,50,37,84)| | | || 44,62,93)

| | C=His (62) G=Ala (50) | | | || (62) Gly=G

| | | C=Asp (62)| Pseudogene? | | | || (62) Lys=A |

| | | | | T=ter (62) | | | || (62) T=Phe | |

| | | |1230 | | 1245 | | | 1260 || | 1275 | |

CGT CCT CTT CAA GAA GTT TAT CCA GAA GCC AAT GCA CCC ATT GGA CAT AAC CGG GAA TCC TAC ATG GTT

GCA GGA GAA GTT CTT CAA ATA GGT CTT CGG TTA CGT GGG TAA CCT GTA TTG GCC CTT AGG ATG TAC CAA

Arg Pro Leu Gln Glu Val Tyr Pro Glu Ala Asn Ala Pro Ile Gly His Asn Arg Glu Ser Tyr Met Val

R P L Q E V Y P E A N A P I G H N R E S Y M V

KKKKKKK

405 410 415 420 425


(93,80) insGG

A=Thr (50,28) (50) Asn=G |

|T=Leu (4,13,28,53,74) (81,62,44,50,12,10,28,3,4,5,18) Asn=A | |

|| G=Val (84)

|| | G=Cys (81,68) (62) Gly=G | | |

|| | |G=ter (65) (12,44,50,1,3-5,18,28,33) Ser=A | | | |

|| | || T=Ile (62) del (18,3,4,88) | | | | |

|| | || | Pseudogene | G=Val(5) (62) Gly=G | | | | |

|| | || | G=Asp (62) | | ins C (26) | | | | | |

|| | || | | C=Arg (50)| |-| C=Pro(84)| | | | | |

1290 || | || | | | |---|1320 | | 1335 | | | | |

CCT TTT ATA CCA CTG TAC AGA AAT GGT GAT TTC TTT ATT TCA TCC AAA GAT CTG GGC TAT GAC TAT AGC

GGA AAA TAT GGT GAC ATG TCT TTA CCA CTA AAG AAA TAA AGT AGG TTT CTA GAC CCG ATA CTG ATA TCG

Pro Phe Ile Pro Leu Tyr Arg Asn Gly Asp Phe Phe Ile Ser Ser Lys Asp Leu Gly Tyr Asp Tyr Ser

P F I P L Y R N G D F F I S S K D L G Y D Y S

430 435 440 445 450


T=ter (3,18,88)

| a (34)


| | g (28)

| | |g (1,44)

| 1366 | ||

TAT CTA CAA GAT TCA G gtaaa gttta cttt ctttc agagg aattg ctgaa tctag tgtta ccaat ttatt ttgag

ATA GAT GTT CTA AGT C cattt caaat gaaa gaaag tctcc ttaac gactt agatc acaat ggtta aataa aactc

Tyr Leu Gln Asp Ser Asp

Y L Q D S D

455 456
ataac acaaa acttt

tattg tgttt tgaaa
IVS 4 (10045 bp)
agagc tggcc ttcaa accca ggtgt ctact ccaaa ggact gtgaa aggat gaaga tgatg gtgat cgtaa caatg

tctcg accgg aagtt tgggt ccaca gatga ggttt cctga cactt tccta cttct actac cacta gcatt gttac


C=Ser (db)

del (62,41) insT (34)

T=Gly (62) || |T=ter(34)

1367 || ||

gtggt aacaa taaaa acaat gggat gtctt tttat ttcag AC CCA GAC TCT TTT CAA GAC TAC ATT AAG TCC

cacca ttgtt atttt tgtta cccta cagaa aaata aagtc TG GGT CTG AGA AAA GTT CTG ATG TAA TTC AGG

Asp Pro Asp Ser Phe Gln Asp Tyr Ile Lys Ser

D P D S F Q D Y I K S

456 460 465
A=ter (80,93) A=Glu (93)

A=Ala (37,62) |del(50)-----| | C=Ala (62) |

1410 | || | 1440 | | 1455 |

TAT TTG GAA CAA GCG AGT CGG ATC TGG TCA TGG CTC CTT GGG GCG GCG ATG GTA GGG GCC GTC CTC ACT

ATA AAC CTT GTT CGC TCA GCC TAG ACC AGT ACC GAG GAA CCC CGC CGC TAC CAT CCC CGG CAG GAG TGA

Tyr Leu Glu Gln Ala Ser Arg Ile Trp Ser Trp Leu Leu Gly Ala Ala Met Val Gly Ala Val Leu Thr

Y L E Q A S R I W S W L L G A A M V G A V L T

470 475 480 485


insT (49,43,44,62,50,34,33,28,18,3,4)

|G=Gly (50,33) insC (3,4,18,28,40) T=ter (93)

|| 14855 1500 | 1515 | 1530

GCC CTG CTG GCA GGG CTT GTG AGC TTG CTG TGT CGT CAC AAG AGA AAG CAG CTT CCT GAA GAA AAG CAG

CGG GAC GAC CGT CCC GAA CAC TCG AAC GAC ACA GCA GTG TTC TCT TTC GTC GAA GGA CTT CTT TTC GTC

Ala Leu Leu Ala Gly Leu Val Ser Leu Leu Cys Arg His Lys Arg Lys Gln Leu Pro Glu Glu Lys Gln

A L L A G L V S L L C R H K R K Q L P E E K Q

490 495 500 505 510


1545 1560 1575 1590 1600

CCA CTC CTC ATG GAG AAA GAG GAT TAC CAC AGC TTG TAT CAG AGC CAT TTA TAA aaggc ttagg caata

GGT GAG GAG TAC CTC TTT CTC CTA ATG GTG TCG AAC ATA GTC TCG GTA AAT ATT ttccg aatcc gttat

Pro Leu Leu Met Glu Lys Glu Asp Tyr His Ser Leu Tyr Gln Ser His Leu ter

P L L M E K E D Y H S L Y Q S H L X

515 520 525 530


1610 1620 1630 1640 1650 1660 1670 1680

gagta gggcc aaaaa gcctg acctc actct aactc aaagt aatgt ccagg ttccc agaga atatc tgctg gtatt

ctcat cccgg ttttt cggac tggag tgaga ttgag tttca ttaca ggtcc aaggg tctct tatag acgac cataa
1690 1700 1710 1720 1730 1740 1750

tttct gtaaa gacca tttgc aaaat tgtaa cctaa tacaa agtgt agcct tcttc caact caggt agaac acacc

aaaga cattt ctggt aaacg tttta acatt ggatt atgtt tcaca tcgga agaag gttga gtcca tcttg tgtgg
1760 1770 1780 1790 1800 1810 1820 1830

tgtct ttgtc ttgct gtttt cactc agccc tttta acatt ttccc cctaa gccat atgtc taagg aaagg atgct

acaga aacag aacga caaaa gtgag tcggg aaaat tgtaa aaggg ggatt cggta tacag attcc tttcc tacga
1840 1850 1860 1870 1880 1890 1900

atttg gtaat gagga actgt tattt gtatg tgaat taaag tgctc ttatt ttaaa aaatt gaaat aattt tgatt

taaac catta ctcct tgaca ataaa catac actta atttc acgag aataa aattt tttaa cttta ttaaa actaa
1910 1920 1930 1940 1950 1960 1970 1980

tttgc cttct gatta tttaa agatc tatat atgtt ttatt ggccc cttct ttatt ttaat aaaac agtga gaaat

aaacg gaaga ctaat aaatt tctag atata tacaa aataa ccggg gaaga aataa aatta ttttg tcact cttta
1990 2000 2010 2020 2030 2040

ctaca ttaac tgact ccttt aggct tcaga aacac atttt tattc tcttc agaaa ggatg atatt ccc

gatgt aattg actga ggaaa tccga agtct ttgtg taaaa ataag agaag tcttt cctac tataa ggg
db: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?locusId=7299


References
(1)=[1]

(2)=[2]

(3)=[3]

(4)=[4]

(5)=[5]

(6)=[6]

(7)=[7]

(8)=[8]sg


(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]

(28)=[28]

(29)=[29]

(30)=[30]

(31)=[31]

(32)=[32]

(33)=[33]

(34)=[34]

(35)=[35]

(36)=[36]

(37)=[37]

(38)=[38]

(39)=[39]

(40)=[40]

(41)=[41]

(42)=[42]

(43)=[43]

(44)=[44]

(45)=[45]

(46)=[46]

(47)=[47]

(48)=[48]

(49)=[49]

(50)=[50]

(51)=[51]

(52)=[52]

(53)=[53]

(54)=[54]

(55)=[55]

(56)=[56]

(57)=[57]

(58)=[58]

(59)=[59]

(60)=[60]

(61)=[61]

(62)=[62]

(63)=[63]

(64)=[15]

(65)=[64]

(66)=[65]

(67)=[66]

(68)=[67]

(69)=[68]

(70)=[69]

(71)=[70]

(72)=[71]

(72)=[72]

(73)=[73]

(74)=[74]

(75)=[75]

(76)=[76]

(77)=[77]

(78)=[78]

(79)=[79]

(80)=[80]

(81)=[81]

(82)=[82]

(83)=[83]

(84)=[84]

(85)=[85]

(86)=[86]

(87)=[87]

(88)=[88]

(89)=[89]

(90)=[90]

(91)=[91]

(92)=[92]

(93)=[93]



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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 -> Homo sapiens mrna for rpgr protein, retina specific isoform
sequence -> Tttttgttttttccttcttacagaaggcactaccctggacgccgcttgcaaacgcctgaagagaaggcagggtgttcccactttttcagaatgggaccaggccctacggccccaatagcagaagcttctctaacccaggactgctcccctcaattcctcccaatatgctgaccgacagctcgacctcacctgggggcggttccgccaggggatggcttaggaaaacctcaggaagagcagcccagcgagtgacg
sequence -> The sequence is given according to Genebank: af039855, U20477-88, U20510
sequence -> Rpgrip aus

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