11
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 |