Mutations of the tyrosinase gene Associated with OCA1

Last update October 14, 2007

Mutations of the tyrosinase gene associated with OCA1.

Deletions of the tyrosinase gene associated with OCA1.

Polymorphisms of the tyrosinase gene.

Bibliography of papers analyzing the tyrosinase gene in individuals with OCA1.

Go to this link for a map of mutations of the tyrosinase gene associated with OCA1.

The Albinism Database is part of the Locus Specific Mutation Databases of the Human Genome Variation Society.

Tyrosinase mutations associated with OCA1

Name	Nucleotide Change*	Effect on coding Sequence	Exon	Type	Population	OMIM Reference	rs#	Reference
M1V*	c.1A>G	p.Met1Val	EX1	A	? European (Italian)	.0037	rs28940881	Breimer et al., 1994 King et al., 2003
M1T	c.2T>C	p.Met1Thr	EX1	A	Caucasian			Oetting et al., 1993c
25delC	c.25delC	Frameshift	EX1	A	Caucasian			Spritz et al., 1997
L9P	c.26T>C	p.Leu9Pro	EX1	A	Caucasian			King et al., 2003
53delG	c.53delG	Frameshift	EX1	A	Caucasian Northern European			Oetting et al., 1998 King et al., 2003
H19Q	c.57T>A	p.His19Gln	EX1	A	Caucasian			Oetting et al., 1998
P21S	c.61C>T	p.Pro21Ser	EX1	A	Caucasian	.0023		Tripathi, et al., 1992a King et al., 2003
V24F	c73G>T	p.Val24Phe	EX1		German			Opitz et al., 2004
75insT	c.75_76insT	Frameshift	EX1	A	Caucasian			King et al., 2003 Opitz et al., 2004
T29P	c.96A>C	p.Thr29Pro	EX1		German			Opitz et al., 2004
C36Y	c.107G>A	p.Cys36Tyr	EX1	A	Caucasian (German)			Passmore et al., 1999
W39X	c.116G>A	p.Trp39X	EX1	A	Caucasian (Italian)			King et al., 2003
G41R	c.121G>A	p.Gly41Arg	EX1	A/B	Caucasian (European)			King et al., 2003
D42N	c.124G>A	p.Asp42Asn	EX1	A	Eastern Indian (West Bengal)			Chaki et al., 2006
D42G	c.125A>G	p.Asp42Gly	EX1	A	Caucasian Northern European	.0019	rs28940878	King et al., 1991 King et al., 2003
S44R	c.130A>C	p.Ser44Arg	EX1		German			Opitz et al., 2004
S44G	c.130A>G	p.Ser44Gly	EX1		German			Opitz et al., 2004
P45T	c.133C>A	p.Pro45Thr	EX1		in dbSNP (submit by TOMITA)		rs13312739	Not Published
G47V	c.139G>T	p.Gly47Val	EX1		German			Opitz et al., 2004
G47D	c.140G>A	p.Gly47Asp	EX1	A	Caucasian, Hispanic, Moroccan Jew, Canary Islands, Puerto Rican, Cuban, Mexican, Native American,German	.0024		Oetting et al., 1991a Oetting et al., 1993b Gerchoni-Baruch et al., 1994 King et al., 2003 Opitz et al., 2004 Santiago Borrero et al., 2006
S50X	c.149C>G	p.Ser50X	EX1	A	Arab Christian Lebanese (Muslim)			Gershoni-Baruch et al., 1994 Zahed et al., 2005
R52I	c.155G>T	p.Arg52Ile	EX1	A	Caucasian			Oetting et al., 1998
C55Y	c.164G>A	p.Cys55Tyr	EX1	A	Caucasian	.0020	rs28940879	King et al., 1991
Q56H	c.168G>T	p.Gln56His	EX1		in dbSNP (submit by CGAP-GAI)		rs11545464	Not Published
Q68H	c.204A>T	p.Gln68His	EX1		German			Opitz et al., 2004
223delG	c.223delG	Frameshift	EX1	A	Caucasian			Oetting et al., 1998
R77W	c.229C>T	p.Arg77Trp	EX1	B	Caucasian European			Spritz et al., 1997 King et al., 2003
R77Q	c.230G>A	p.Arg77Gln	EX1	A	Japanese, Korean European, German	.0005 .0010		Takeda et al., 1990 Kikuchi et al., 1990 Park et al., 1997 Tanita et al., 2002 King et al., 2003 Opitz et al., 2004
232insGGG	c.232_233insGGG	p.Arg77_Glu78insGly	EX1	A	Chinese			Tsai et al., 1999
E78X	c.232G>T	p.Glu 78X	EX1	A	Caucasian			Spritz et al., 1997
S79P	c.235C>T	p.Ser79Pro	EX1	A/B	Caucasian			King et al., 2003
S79L	c.236C>T	p.Ser79Leu	EX1		German			Opitz et al., 2004
W80R	c.238T>C	p.Trp80Arg	EX1	A	Caucasian Northern European			Spritz et al., 1997 King et al., 2003
W80X	c.240G>A	Trp80X	EX1	A	Caucasian			Oetting et al., 1998
P81L	c.242C>T	p.Pro81Leu	EX1	A	Caucasian Northern European German	.0002	rs28940876	Giebel et al., 1990 King et al., 2003 Opitz et al., 2004
P81S	c.241C>T	p.Pro81Ser	EX1	A/B	Caucasian			King et al., 2003
T85X	c.255T>G	p.Tyr85X	EX1	A	Lebanese			Zahed et al., 2005
C89R	c.265T>C	p.Cys89Arg	EX1	A	African-American	.0011	rs28940877	Spritz et al., 1991
Q90R	c.269A>G	p.Gln90Arg			in dbSNP (submit by TOMITA)		rs13312740	Not published
C91S	c.272G>C	p.Cys91Ser	EX1	A	Eastern Indian (West Bengal)			Chaki et al., 2006
286insA	c.286_287insA	Frameshift	EX1	A	Caucasian	.0018		Oetting et al., 1991c King et al., 2003
G97R	c.289G>A	p.Gly97Arg	EX1	A	Caucasian			Oetting et al., 1998
G97V	c.290G>T	p.Gly97Val	EX1	B?	Japanese			Goto et al., 2004
G106R	c.316G>A	p.Gly106Arg	EX1	A	Northern European			King et al., 2003
G109R	c.325G>A	p.Gly109Arg	EX1	A	Caucasian?			Camand et al., 2001
338-339delCA	c.338_339delCA	Frameshift	EX1	A	Caucasian?			Camand et al., 2001 Passmore et al., 1999
344-345delGA	c.344_345delGA	p.Arg115fsX52	EX1	A	Pakistani, Caucasian, German			Oetting et al., 1993a King et al., 2003 Opitz et al., 2004
R116X	c.346C>T	p.Arg116X	EX1	A	Caucasian, Chinese, German			Oetting et al., 1998 King et al., 2003 Opitz et al., 2004
D125Y	c.373G>T	p.Asp125Tyr	EX1		in dbSNP (submit by TOMITA)		rs13312741	Not published
F134C	c.401T>G	p.Phe134Cys	EX1		in dbSNP (submit by SNP500)		rs33955261	Not published
K142N	c.426G>T	p.Lys142Asn	EX1		in dbSNP (submit by CGAP-GAI)		rs11545463	Not published
P152S	c.454C>T	p.Pro152Ser	EX1	A	Ashkenazi Jew			Gershoni-Baruch et al., 1994
459insT	c.459_460insT	Frameshift	EX1	A	Caucasian (German)			Passmore et al., 1999
T155S	c.463A>T	p.THR155Ser	EX1		German			Opitz et al., 2004
F176I	c.526T>A	p.Phe176Ile	EX1	A	Caucasian			Oetting and King, 1992b
V177F	c.529G>T	p.Val177Phe	EX1		German			Opitz et al., 2004
W178X	c.533G>A	p.Trp178X	EX1	A	Afgan	.0014		Giebel et al., 1991a
M179L	c.535A>T	p.Met179Leu	EX1		German			Opitz et al., 2004
H180N	c.538C>A	p.His180Asn	EX1		German			Opitz et al., 2004
572delG	c.572delG	Frameshift	EX1	A	Caucasian	.0015		Oetting et al., 1991c King et al., 2003
573delA	c.573delA	Frameshift	EX1	A	Caucasian (European), Syrian			King et al., 2003
589delGA	c.589_590delGA	Frameshift	EX1	A	Caucasian (Northern European)			King et al., 2003
D199N	c.595G>A	p.Asp199Asn	EX1		German			Opitz et al., 2004
A201S	c.601G>T	p.Ala201Ser	EX1		German			Opitz et al., 2004
601delG	c.601delG	p.Ala201fsX24	EX1		German			Opitz et al., 2004
P205T	c.613C>A	p.Pro205Thr	EX1	A	Caucasian European, Armenian			Camand et al., 2001 King et al., 2003
A206T	c.619G>A	p.Ala206Thr	EX1	A	Caucasian	.0021	rs28940880	King et al., 1991
P209R	c.626C>G	p.Pro209Arg	EX1	A/B	Caucasian			King et al., 2003
L216M	c.646T>A	p.Leu216Met	EX1	A	Canary Islands	.0036		Oetting et al., 1993b
649delC	c.649delC	Frameshift	EX1	A	Ashkenazi/Tunisian/Sephardic Jew			Gershoni-Baruch et al., 1994 King et al., 2003
R212K	c.635G>A	p.Arg212Lys	EX1	A	Caucasian			King et al., 2003
R217G	c.649C>G	p.Arg217Gly	EX1	A	Caucasian			Spritz et al., 1997
R217W	c.649C>T	p.Arg217Trp	EX1	A	Caucasian	.0025		Tripathi, et al., 1992a King et al., 2003
R217Q	c.650G>A	p.Arg217Gln	EX1	A	Caucasian, European			Oetting and King, 1992b King et al., 2003
R217S	c.649_650CG>TC	p.Arg217Ser	EX1		German			Opitz et al., 2004
E219K	c.655G>A	p.Glu219Lys	EX1	A	Southern Indian (Andhra Pradesh)			Chaki et al., 2006
E221K	c.661G>A	p.Glu221Lys	EX1	A	Caucasian			King et al., 2003
I222T	c.665T>C	p.Ile222Thy	EX1		in dbSNP (Submit by SNP500)		rs34878847	Not published
678-680delAGG	c.678_680delAGG	Frameshift	EX1	A	Caucasian?			Camand et al., 2001
W236X	c.707G>A	p.Trp236X	EX1	A	African	.0035		Oetting et al., 1993b
W236S	c.707G>C	p.Trp236Ser	EX1	A	Caucasian (German)			Passmore et al., 1999
W236L	c.707G>T	p.Trp236Leu	EX1		German			Opitz et al., 2004
R239W	c.715C>T	p.Arg239Trp	EX1	A	Japanese, Chinese			Nakamura et al., 2002 Tanita et al., 2002 King et al., 2003
R239Q	c.716G>A	p.Arg239Gln	EX1		in dbSNP (submit by SNP500)		rs36006590	Not published
D240V	c.719A>T	p.Asp240Val	EX1		German			Opitz et al., 2004
K243T	c.728A>C	p.Lys243Thr	EX1		German			Opitz et al., 2004
731delGT	c.731_732delGT	Frameshift	EX1	A	Caucasian French	.0017		Oetting et al., 1991c Coupry et al, 2001 King et al., 2003
G253R	c.757G>A	p.Gly253Arg	EX1	A	Israeli Arab			Spritz et al., 1997
G253E	c.758G>A	p.Gly263Glu	EX1	A	Caucasian			King et al., 2003
H256Y	c.766C>T	p.His256Tyr	EX1	A	Caucasian, German, Lebanese			Camand et al., 2001 Opitz et al., 2004 Zahed et al., 2005
P260L	c.779C>T	p.Pro260Leu	EX1		in dbSNP (Submit by CSHL-HAPMAP)		rs11826502	Not published
A266T	c.796G>A	p.Ala266Thr	EX1		in dbSNP (Submit by APPLERA)		rs34297847	Not published
D271N	c.813G>A	p.Asp271Asn	EX1		German			Opitz et al., 2004
W272C	c.816G>C	p.Trp272Cys	EX1	A	Caucasian (German), Jordanian			Passmore et al., 1999 Hattab et al., 2005
W272R	c.814T>C	p.Trp272Arg	EX1	A	Lebanese			Zahed et al., 2005
IVS1-2delA	c.820-2delA	Splice mutation	IVS1		German			Opitz et al., 2004
IVS1-3C>G	c.820-3C>G	Splice mutation	IVS1	A?	Chinese, Taiwanese			Tsai et al., 1999 King et al., 2003 Lin et al., 2006
V275F	c.823G>T	p.Val275Phe	EX2	B	Caucasian	.0007		Giebel et al., 1991c King et al., 2003
R278X	c.832C>T	p.Arg278X	EX2	A	Indo-Pakistani, Guayanan, Moroccan Jew, Japanese, European, Mexican, Indian, Syrian, Eastern Indian (West Bengal)			Tripathi et al., 1993 Spritz, 1993 Gershoni-Baruch, et al., 1994 Matsunaga et al., 1998 Tanita et al., 2002 King et al., 2003 Goto et al., 2004 Sundaresan et al., 2004 Chaki et al., 2005a Chaki et al., 2006
841delG	c.841delG	Frameshift	EX2	A	Caucasian (German)			Passmore et al., 1999
842delA	c.842delA	p.Glu281fsX37	EX2		German			Opitz et al., 2004
862delTT	c.862_863delTT	Frameshift	EX2	A	Chinese			Tsai et al., 1999
863delT	c.863delT	Frameshift	EX2	A	Korean			Spritz, 1993
N283I	c.848A>T	p.Asn283Ile	EX2		in dbSNP (submit by CSHL-HAPMAP)		rs11824499	Not published
L288S	c.863T>C	p.Leu288Ser	EX2	A	Caucasian			Oetting et al., 1994
C289R	c.865T>C	p.Cys289Arg	EX2	A	Caucasian			Oetting et al., 1998 Opitz et al., 2004
C289G	c.865T>G	p.Cys289Gly	EX2	A?	Chinese			Tsai et al., 1999
C289Y	c.866G>A	p.Cys289Tyr	EX2	A	Caucasian			King et al., 2003
E294K	c.880G>A	p.Glu294Lys	EX2	A	Moroccan/Sephardic Jew. Caucasian			Gershoni-Baruch et al., 1994 Spritz et al., 1997 King et al., 2003
E294G	c.881A>G	p.Glu294Gly	EX2	A	Caucasian (German)			Passmore et al., 1999
R299S	c.895C>A	p.Arg299Ser	EX2	B	Caucasian, Taiwanese			Spritz, 1997 King et al., 2003 Lin et al., 2006
R299H	c.896G>A	p.Arg299His	EX2	A	Caucasian, Arab Christian, Korean	.0026		Tripathi, et al., 1992a Gershoni-Baruch et al., 1994 Park et al., 1997a King et al., 2003 Zahed et al., 2005
911delATGA	c.911_914delATGA	Frameshift	EX2	A	Caucasian			King et al., 2003
D305E	c.915C>A	p.Asp305Glu	EX2	A	Caucasian			King et al., 2003
R308T	c.923G>C	p.Arg308Thr	EX2		in dbSNP (submit by LEE & SNP500)		rs1042608	Not published
929insC	c.929_930insC	Frameshift	EX2	A	Japanese, Korean	.0001 .0027		Tomita et al., 1989 Park et al., 1997b Tanita et al., 2002 Goto et al., 2004
L312V	c.934C>G	p.Leu312Val	EX2	A	Hmong			Oetting et al., 1998
937del8bp	c.937_944del8	Frameshift	EX2		Eastern Indian (West Bengal)			Sundaresan et al., 2004
P313R	c.938C>G	p.Pro313Arg	EX2	A	Hmong			Oetting et al., 1998
V318E	c.953T>A	p.Val318Glu	EX2		German			Opitz et al., 2004
T325A	c.973A>G	p.Thr325Ala	EX2	B	Caucasian			Spritz et al., 1997
Q326X	c.976C>T	p.Gln326X	EX2	A	Southern Indian (Andhra Pradesh)			Chaki et al., 2006
Y327C	c.980A>G	p.Tyr327Cys	EX2	A/B	Moroccan, Caucasian			Badens, 2001 King et al., 2003
E328Q	c.982G>C	p.Glu328Gln	EX2	A	Indo-Pakistani			Tripathi et al., 1993
S329P	c.985T>C	p.Ser329Pro	EX2		German			Opitz et al., 2004
M332T	c.995T>C	p.Met332Thr	EX2	A/B	Caucasian			King et al., 2003 Opitz et al., 2004
S339G	c.1015A>G	p.Ser339Gly	EX2	A	Jamaican			Spritz et al., 1997
F340L	c.1018T>C	p.Phe340Leu	EX2	A	Caucasian			Oetting et al., 1998
E345G	c.1034A>G	p.Glu345Gly	EX2		German			Opitz et al., 2004
G346X	c.1036G>T	p.Gly346X	EX2	A	Caucasian			Oetting et al., 1994 King et al., 2003
IVS2+2T>G	c.1036+2T>G	Splice mutation	IVS2	A/B	Caucasian			King et al., 2003
IVS2, del 15bp	? 60bp+	polymorphism?	IVS2	A	Lebanese			Zahed et al., 2005
IVS2-2T ->A and IVS2-10delTT	c.1037-2T>A and c.1037-10_11delTT	Splice mutation	IVS2	B	Korean, Japanese			Park et al., 1997b Matsunaga et al., 1999
IVS2-7T ->A and IVS2-10delTT	c.1037-7T.A and c.1037-10_11delTT	Splice mutation	IVS2		Japanese			Goto et al., 2004
IVS2-7T>A	c.1037-7T>A	Splice mutation	IVS2	B	Caucasian, Moroccan/Sephardic Jew, Japanese, European			Spritz, 1993 Gershoni-Baruch et al., 1994 Tanita et al., 2002 King et al., 2003
IVS2-1G>A	c.1037-1G>A	Splice mutation	IVS2	A	Caucasian			Spritz et al., 1997
G346E	c.1037G>A	p.Gly346Glu	EX3	A	Caucasian			Oetting et al., 1994 Zahed et al., 2005
A355P	c.1063G>C	p.Ala355Pro	EX3	A	Caucasian			Spritz, 1993 Opitz et al., 2004
A355E	c.1064C>A	p.Ala355Glu	EX3	A	Caucasian			Oetting et al., 1994
Q359L	c.1076A>T	p.Gln359Leu	EX3	A	Lebanese			Zahed et al., 2005
Q359X	c.1075C>T	p.Gln359X	EX3	A	Caucasian, German			Spritz et al., 1997 Opitz et al., 2004
S360G	c.1078A>G	p.Ser360Gly	EX3	A	Lebanese			Zahed et al., 2004
S361R	c.1083C>A	p.Ser361Arg	EX3	A	Caucasian			Summers et al., 1996
H363T	c.1087C>T	p.His363Thr	EX3		German			Opitz et al., 2004
H367Y	c.1099C>T	p.His367Tyr	EX3	A	?			Breimer et al., 1994
H367R	c.1100A>G	p.His367Arg	EX3	A	Caucasian			Oetting and King, 1994
Y369C	c.1106A>G	p.Tyr369Cys	EX3	A	Caucasian			King et al., 2003
M370T	c.1109T>C	p.Met370Thr	EX3	A	?			Breimer et al., 1994
N371Y	c.1111A>T	p.Asn371Tyr	EX3	B	Caucasian (German)			Passmore et al., 1999
N371T	c.1112A>C	p.Asn371Thr	EX3	A	Caucasian	.0028		Oetting et al., 1991a King et al., 2003
G372R	c.1114G>A	p.Gly372Arg	EX3	A	Eastern Indian (West Bengal)			Chaki et al., 2006
T373K	c.1118C>A	p.Thr373Lys	EX3	A	Caucasian, Libyan Jew, European, German	.0003		Spritz et al., 1990 Gershoni-Baruch et al., 1994 King et al., 2003 Opitz et al., 2004
Q376X	c.1126C>T	p.Gln376X	EX3	A	Indo-Pakistani			Tripathi et al., 1993
Q378X	c.1132C>T	p.Gln378X	EX3	A	Caucasian			Oetting and King, 1992b
Q378K	c.1132C>A	p.Gln378Lys	EX3		German			Opitz et al., 2004
S380P	c.1138T>C	p.Ser380Pro	EX3	A	Caucasian			Spritz, 1993
N382K	c.1146C>A	p.Asn382Lys	EX3	A	Caucasian	.0016		Oetting et al., 1991c
D383N	c.1147G>A	p.Asp383Asn	EX3	A	Caucasian, Korean	.0004		Spritz et al., 1990 Park et al., 1997b Tanita et al., 2002 King et al., 2003 Opitz et al., 2004
1164delT	c.1164delT	p.His389fsX95	EX3	A	Caucasian, German	.0029		Tripathi et al., 1992a Opitz et al., 2004
1167_1168insT	c.1167_1168insT	p.His390fsX4	EX3		German			Opitz et al., 2004
H390D	c.1168C>G	p.His390Asp	EX3	A	Caucasian			Spritz, 1993
A391E	c.1172C>A	p.Ala391Glu	EX3	A	Caucasian			King et al., 2003
1176delT	c.1176delT	Frameshift	EX3	A	Caucasian			King et al., 2003
V393F	c.1177G>T	p.Val393Phe	EX3	A	Caucasian			Oetting et al., 1994 Opitz et al., 2004
1180delG	c.1180delG	p.Asp394fsX90	EX3		German			Opitz et al., 2004
S395R	c.1183A>C	p.Ser395Arg	EX3		German			Opitz et al., 2004
S395N	c.1184G>A	p.Ser395Asn	EX3	A	Caucasian			Spritz et al., 1997
IVS3+3T>C	c.1184+3T>G	Splice Site	IVS3		German			Opitz et al., 2004
E398V	c.1194A>T	p.Glu398Val	EX4		German			Opitz et al., 2004
E398A	c.1194A>C	p.Glu398Ala	EX4		German			Opitz et al., 2004
W400L	c.1199G>T	p.Trp400Leu	EX4	A	Chinese			Tsai et al., 1999 Lin et al., 2006
1206delA	c.1206delA	Frameshift	EX4	A	Lebanese			Zahed et al., 2005
R402G	c.1204C>G	p.Arg402Gly	EX4	B	Caucasian			Oetting et al., 1994
R402X	c.1204C>T	p.Arg402X	EX4	A	Caucasian, Arab Christian, European, Lebanese, German, Lebanese (Christian)			Spritz, 1993 Gershoni-Baruch et al., 1994 King et al., 2003 Opitz et al., 2004 Zahed et al., 2005
R402Q	c.1205G>A	p.Arg402Gln	EX4	Poly/B?	Caucasians, Autosomal Recessive OA			Tripathi et al., 1991 Morell et al., 1997 Opitz et al., 2004 Toyofuku et al., 2001
R402L	c.1205G>T	p.Arg402Leu	EX4		German			Opitz et al., 2004
R403S(a)	c.1209G>C	p.Arg403Ser	EX4		German			Opitz et al., 2004
R403S(b)	c.1209G>T	p.Arg403Ser	EX4	A	Caucasian, German	.0030		Tripathi, et al., 1992a Opitz et al., 2004
H404N	c.1210C>A	p.His404Asn	EX4		German			Opitz et al., 2004
H404P	c.1211A>C	p.His404Pro	EX4	A	Caucasian			Oetting et al., 1998
R405L	c.1214G>T	p.Arg405Leu	EX4		German			Opitz et al., 2004
P406L	c.1217C>T	p.Pro406Leu	EX4	B	Caucasian	.0006		Giebel et al., 1991c Toyofuku et al., 2001 King et al., 2003 Opitz et al., 2004 Chaki et al., 2005b
Q408H	c.1224A>C	p.Gln408His	EX4		German			Opitz et al., 2004
E409D	c.1227A>C	p.Glu409Asp	EX4		German			Opitz et al., 2004
P412A	c.1234C>G	p.Pro412Ala	EX4	A	Caucasian			King et al., 2003
E413X	c.1237G>T	p.Glu413X	EX4		German			Opitz et al., 2004
A416S	c.1246G>T	p.Ala416Ser	EX4		German			Opitz et al., 2004
P417H	c.1250C>A	p.Pro417His	EX4		German			Opitz et al., 2004
G419R	c.1255G>A	p.Gly419Arg	EX4	A	Caucasian, Indo-Pakistani	.0022		King et al., 1991 Tripathi et al., 1993 King et al., 2003 Opitz et al., 2004 Chaki et al., 2006
R422W	c.1264C>T	p.Arg422Trp	EX4	A/B	Caucasian			King et al., 2003
R422Q	c.1265G>A	p.Arg422Gln	EX4	TS	Caucasian	.0012		Giebel et al., 1991b Toyofuku et al., 2001 Opitz et al., 2004
S424F	c.1271C>T	p.Ser424Phe	EX4		German			Opitz et al., 2004
M426K	c.1265T>A	p.Met426Lys	EX4		German			Opitz et al., 2004
V427G	c.1280T>G	p.Val427Gly	EX4		German			Opitz et al., 2004
P431T	c.1291C>A	p.Pro431Thr	EX4	A	Indo-Pakastani, Northern European			Spritz, 1993 King et al., 2003
P431L	c.1292C>T	p.Pro431Leu	EX4	A	Indo-Pakastani, Japanese			Tripathi et al., 1993 Matsunaga et al., 1996 Tanita et al., 2002
Y433C	c.1298A>G	p.Y433C	EX4	B	Lebanese			Zahed et al., 2005
Y433X	c.1299C>G	p.Tyr433X	EX4		Indian			Ray et al., 2006
R434I	c.1302G>T	p.Arg434Ile	EX4		German			Opitz et al., 2004
N435D	c.1303A>G	p.Asn435Asp	EX4		German			Opitz et al., 2004
G436R	c.1306G>C	p.Gly436Arg	EX4	A	European			King et al., 2003
1314delCTTT	c.1314_1317delCTTT	Frameshift	EX4	A	Caucasian			Oetting and King, 1992b
F439V	c.1315T>G	p.Phe439Val	EX4	A	Caucasian (German)			Passmore et al., 1999
1315delTTT -> CC	c.1315_1317TTT>CC	Frameshift	EX4	A	?			Breimer et al., 1995
D444G	c.1331A>G	p.Asp444Gly	EX4		German			Opitz et al., 2004
G446S	c.1336G>A	p.Gly446Ser	EX4	A	Caucasian	.0031		Tripathi, et al., 1992a King et al., 2003
D448N	c.1342G>A	p.Asp448Asn	EX4	B	Caucasian	.0032		Tripathi, et al., 1992a King et al., 2003 Opitz et al., 2004 Zahed et al., 2005
Y449C	c.1346A>G	p.Tyr449Cys	EX4	A	Caucasian			King et al., 2003
Q453X	c.1357C>T	p.Gln453X	EX4	A	Pakistani			Oetting and King, 1992b
IVS4+4A -> G	c.1366+4A>G	Splice mutation	IVS4	A	Caucasian			Spritz, 1993
IVS4+5A -> G	c.1366+5A>G	Splice mutation	IVS4	A	Caucasian			Spritz, et al., 1997
F460S	c.1379T>C	p.Phe460Ser	EX5		in dbSNP (Submit by TOMITA)		rs13312744	Not published
1379del2bp	c.1379_1380delTT	Frameshift	EX5	A	Eastern Indian (West Bengal)			Sundaresan et al., 2004 Chaki et al., 2006
1423del11bp	c.1423_1433del11bp	Frameshift	EX5	A	Caucasian			King et al., 2003
1467insT	c.1467_1468insT	Frameshift	EX5	A	?	.0033		Chintamaneni et al., 1991 King and Oetting, 1992 King et al., 2003 Opitz et al., 2004
A490G	c.1469C>G	p.Ala490Gly	EX5	A	Caucasian			King et al., 2003
1501insC	c.1501_1502insC	p.Arg501fsX8	EX5	A	Caucasian	.0034		Giebel et al., 1991c Opitz et al., 2004

Deletion of at least exon 1 (with leucodystrophy)	-	-	EX1-(?)		French	Coupry et al., 2001
Deletion of exons 4 and 5			EX4-5		Southern Indian (Andhra Pradesh)	Chaki et al., 2006
Deletion of entire coding region of the tyrosinase gene	-	-	EX1-5	A	?	Schnur et al., 1996

Nucleotide 1 begins at the first nucleotide of codon 1

Tyrosinase Polymorphisms

Name	Nucleotide Change*	Effect on coding Sequence	Exon	Population	RS#	OMIM Reference	Reference
-833 to -724	Complex (GA)n repeat	None	P				Morris et al., 1991
-301C/T*	c.-301C/T	None	P	Caucasian, oriental	rs4547091		Oetting et al., 1993d
-259G/C	c.-259G/C	None	P	Caucasian	None		Unpublished
-199C/A	c.-199C/A	None	P	Polymorphism	rs1799989	.0013	Oetting et al., 1991b
6C/T	c.6C/T	No change Leu2	EX1	in dbSNP (submit by APPLERA)	rs35541275		Not published
114G/A	c.114G/A	No change Pro38	EX1	in dbSNP (submit by TSC-CSHL)	rs1939261		Not published
178C/T	c.178C/T	No change Leu60	EX1	in dbSNP (submit by TSC-CSHL)	rs1939260		Not published
Y/S192	c.575A/C	p.192Tyr/Ser	EX1	Caucasian	rs1042602	.0008	Giebel and Spritz, 1990
835C/T	c.835C/T	No change Leu279	EX2	in dbSNP (submit by PERLEGEN)	rs4987234		Not published
1018T/C	c.1018T/C	No change Asn342	EX2	Lebanese	None		Zahed et al., 2005
1065G/A	c.1065G/A	No change Ala355	EX3	Ashkenazi Jew	rs1800421		Gershoni-Baruch et al., 1994
1137A/T	c.1137A/T	No change Gly379	EX3	German	None		Opitz et al., 2004
1167C/T	c.1167C/T	No change His389	EX3	in dbSNP (submit by TOMITA)	rs13312743		Not published
R/Q402	c.1205G/A	p.402Arg/Gln	EX4	Caucasians	rs1126809	.0009	Tripathi et al., 1991
1206A/C	c.1206A/C	No change Arg 402	EX4	German	None		Opitz et al., 2004
1338C/G	c.1338C/G	No change Gly 446	EX4	German	None		Opitz et al., 2004
1368A/T	c.1368A/T	No Change Gly456	EX5	German	None		Opitz et al., 2004
1413G/A	c.1413G/A	No change Ala471	EX5	German TYRL co-amplification	rs3913544		Opitz et al., 2004 Chaki et al., 2005b
1446G/C	c.1446G/C	No change Ala482	EX5	German	rs3913543		Opitz et al., 2004

Nucleotide 1 begins at the first nucleotide of codon 1

References

This is a complete bibliography (as far as I know) of papers analyzing the tyrosinase gene in humans for mutations associated with OCA1. This includes references not used in the above table. Papers analyzing identified tyrosinase mutations can be found at this link. If you know of any missed references, please let me know.

Aquaron, R. L'albinisme oculocutane humain. De l'observation clinique a la biologie moleculaire. Bull Soc Pathol Exot 86:313-26, 1993. [Link to article (PubMed)]

Badens, C. Centre d'Enseignement et de Recherche en Genetique Medicale Faculte de Medecine 13385 Marseille cedex 5 France, 2001. [Unpublished mutation]

Breimer, L. H., Winder, A. F., Jay, B. and Jay, M. Initiation codon mutation of the tyrosinase gene as a cause of human albinism. Clinica Chimica Acta 227:17-22, 1994. [Link to article (PubMed)]

Breimer, L. H., Winder, A. F., Panayiotidis, P., Jay, M., Moore, A., and Jay, B. A trinucleotide deletion together with a base duplication event at codon 439 in the human tyrosinase gene identifies a mutational hotspot. Clinica Chimica Acta 243:35-22, 1995. [Link to article (PubMed)]

Camand, O., Marchant, D., Boutboul, S., Pequignot, M., Odent, S., Dollfus, H., Suterland, J., Levin, A., Menasche, M., Marsac, C., Dufier, J-L., Heon, E., Abitbol, M. Mutation analysis of the tyrosinase gene in oculocutaneous albinism. Human Mutation, Mutation in Brief #409, 2001. [Link to article (PubMed] [Link to article (Human Mutation)]

Chaki M., Mukhopadhyay A., Chatterjee S., Das M., Samanta S., Ray K. Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene. Molecular Vision; 11:531-534, 2005a. [Link to article (PubMed])

Chaki M., Mukhopadhyay A., Ray K., Determination of variants in the 3'-region of the tyrosinase gene requires locus specific amplification. Human Mutation 26:53-58, 2005b. [Link to article (PubMed])

Chaki M., Sengupta M., Mukhopadhyay A., Subba Rao I., Majumder P., Das M., Samantha S., Ray K. Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene. Annals of Human Genetics 20:623-630, 2006. [Link to article (PubMed])

Chintamaneni, C. D., R. Halaban, Y. Kobayashi, C. J. Witkop, and B. S. Kwon. A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism. Proceedings of the National Academy of Sciences USA 88:5272-5276, 1991a. [Link to article (PubMed)]

Coupry, I., Taine, L., Goizet, C., Soriano, C., Mortemousque, B., Arveiler, B., Lacombe, D. Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion. Journal of Medical Genetics 38:35-39. 2001. [Link to article (PubMed)]

Fukai K., Holmes, S. A., Lucchese, H. J., Siu, V. M., Weleber, R. G., Schnur, R. E., Spritz, R.A. Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nature Genetics 9:92-95, 1995 [Link to article (PubMed)]

Gershoni-Baruch R., Rosemann, A., Droetto, S., Holmes, S., Tripathi, R. K., Spritz, R. A. Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. American Journal of Human Genetics 54:586-594, 1994. [Link to article (PubMed)]

Giebel, L. B., K. M. Strunk, R. A. King, J. M. Hanifin, and R. A. Spritz. A frequent tyrosinase gene mutation in classic, tyrosinase- negative (Type IA) oculocutaneous albinism. Proceedings of the National Academy of Sciences USA 87:3255-3258, 1990. [Link to article (PubMed)]

Giebel, L. B., Spritz, R. A. RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR. Nucleic Acids Research 18:3103, 1990. [Link to article (PubMed)]

Giebel, L. B., Musarella, M. A., Spritz, R. A. A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. Journal of Medical Genetics 28:464-467, 1991a. [Link to article (PubMed)]

Giebel, L. B., Tripathi, R. K., King, R. A., Spritz, R. A. A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. Journal of Clinical Medicine 87:1119-1122, 1991b. [Link to article (PubMed)]

Giebel, L. B., R. K. Tripathi, K. M. Strunk, J. M. Hanifin, C. E. Jackson, R. A. King, and R. A. Spritz. Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism. American Journal of Human Genetics 48:1159-1167, 1991c. [Link to article (PubMed)]

Goto M., Sato-Matsumura K., Sawamura D., Yokota K., Nakamura H., Shimizu H. Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism. Journal of Dermatological Science 35:215-220, 2004. [Link to article (PubMed)]

Hattab F., Amin W. Papillon-Lefevre syndrome with albinism: A review of the literature and report of 2 brothers. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 100:709-16, 2005. [Link to article (PubMed)]

Hsieh, Y-Y, Wu, J-Y, Chang, C-C, Tsai, F-J, Lee, C-C, Tsai, H-D, Tsai, C-H. Prenatal diagnosis of oculocutaneous albinism two mutations located at the same allele. Prenatal Diagnosis:21:200-201, 2001. [Link to article (PubMed)]

Kikuchi, H., Hara, S., Ishiguro, S., Tamai, M., Watanabe, M. Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA. Human Genetics 85:123-124, 1990. [Link to article (PubMed)]

Kim, D-K., Kang, K-H., Choi, I-J. One-allele system in the Korean for MboI-RFLP in exon 1 of the human tyrosinase (TYR) gene. Journal of Dermatological Science 24:1-3. 2000. [Link to article (PubMed)]

King, R. A., M. M. Mentink, and W. S. Oetting. Non-random distribution of missense mutations within the human tyrosinase gene in Type 1 (tyrosinase-related) oculocutaneous albinism. Molecular and Biological Medicine 8:19-29, 1991. [Link to article (PubMed)]

King, R. A., Townsend, D., Oetting, W., Summers, C. G., Olds, D. P., White, J. G., Spritz, R.A. Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. Journal of Clinical Investigation. 87:1046-1053, 1991. [Link to article (PubMed)]

King, R. A., Oetting, W. S. Unpublished data, International Albinism Center, University of Minnesota, Minneapolis, MN.

King, R. A. and W. S. Oetting. Molecular basis of type IA (tyrosinase negative) oculocutaneous albinism. Pigment Cell Research Supplement 2:19-23, 1992b. [Link to article (PubMed)]

King, R. A., Pietsch, J., Fryer, J. P., Savage, S., Brot, M. J., Russell-Eggitt, I., Summers, C. G., Oetting W. S. Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. Human Genetics 113:502-513, 2003. [Link to article (PubMed)]

Lee, S-T., Park, S-K., Lee, H., Lee, J-S., Park, Y-W. DNA based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA1). Japanese Journal of Human Genetics 42:499-505, 1997. [Link to article (PubMed)]

Lin S., Chien S., Su Y., Lee C., Chen C. Rapid genetic analysis of oculocutaneous albinism (OCA1) using denaturing high performance liquid chromatography (DHPLC) system. Prenatal Diagnosis 26:466-470, 2006. [Link to article (PubMed)]

Matsunaga, J., Takeda, A., Tomita, Y., Hara, M., Shibahara, S., Tagami, H. Cloning and sequence analysis of the tyrosinase gene from a patient with tyrosinase-positive oculocutaneous albinism. Journal of Dermatological Science 3:181-185, 1992. [Link to article (PubMed)]

Matsunaga, J., Dakeishi, M., Shimizu, H., Tomita, Y. R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism. Journal of Dermatological Science 13:134-139, 1996. [Link to article (PubMed)]

Matsunaga, J., Dakeishi, M., Miyamura, Y., Tomita, Y. Sequence analysis of the human tyrosinase promoter from a patient with tyrosinase-negative oculocutaneous albinism. Pigment Cell Research 10:64-67, 1997. [Link to article (PubMed)]

Matsunaga, J., Dakeishi-Hara, M., Miyamura, Y., Nakamura, E., Tanita, M., Satomura, K., Tomita, Y. Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper. Dermatology 196:189-193, 1998. [Link to article (PubMed)]

Matsunaga, J., Dakeishi-Hara, M., Tanita, M., Nindl, M., Nagata, Y., Nakamura, E., Miyamura, Y., Kikuchi, K., Furue, M., Tomita, Y. A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albllinism in a Japanese patient with a pigmented phenotype. Dermatology 199:124-129, 1999. [Link to article (PubMed)]

Morell R., Spritz R.A., Ho L., Pierpont J., Guo W., Friedman T. B. and Asher Jr J. H. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Human Molecular Genetics 6:659-664, 1997. [Link to article (PubMed)]

Morris S.W., Muir W., St Chair D., Dinucleotide repeat polymorphism at the human tyrosinase gene. Nucleic Acids 19:6968, 1991. [Link to article (PubMed)]

Nakamura, E., Miyamura, Y., Matsunaga, J., Kano, Y., Dakeishi-Hara, M., Tanita, M., Kono, M., Tomita, Y. A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). Journal of Dermatological Science 28:102-105, 2002. [Link to article (PubMed)]

Oetting, W. S., Handoko, H. Y., Mentink, M. M., Paller, A. S., White, J. G., King, R. A. Molecular analysis of an extended family with type IA (tyrosinase negative) oculocutaneous albinism. Journal of Investigative Dermatology 97:15-19, 1991a. [Link to article (PubMed)]

Oetting, W. S., Roed, C. M., Mentink, M. M., Handoko, H. Y., King, R. A. PCR detection of a TaqI polymorphism at the CCAATT box of the human tyrosinase (TYR) gene. Nucleic Acids Research 19:5800, 1991b. [Link to article (PubMed)]

Oetting, W. S., Mentink, M. M., Summers, C. G., Lewis, R. A., White, J. G., King, R. A. Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism. American Journal of Human Genetics 49:199-206, 1991c. [Link to article (PubMed)]

Oetting, W. S., King, R. A. Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism. Human Genetics 90:258-262, 1992b. [Link to article (PubMed)]

Oetting, W. S., Fryer, J. P., King, R. A. A dinucleotide deletion (-deltaGA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual. Human Molecular Genetics 2:1047-1048, 1993a. [Link to article (PubMed)]

Oetting, W. S., Witkop, C. J., Brown, S. A., Colomer, R., Fryer, J. P., Bloom, K. E., King, R. A. A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. American Journal of Human Genetics 52:17-23, 1993b. [Link to article (PubMed)]

Oetting, W. S., Skach, W., Fryer, J. P., King, R. A. Unusual tyrosinase mutations associated with OCA1. American Journal of Human Genetics 53:935, 1993c. [abstract]

Oetting, W. S. and King R. A. Molecular basis of type 1 (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene. Human Mutation 2:1-6, 1993d. [Link to article (PubMed)]

Oetting, W. S., Fryer, J. P., Oofuji, Y., Missendorf, L. R., Brumbaugh, J. A., Summers, C. G., King, R. A. Analysis of tyrosinase gene mutations using direct automated infrared fluorescence DNA sequencing of amplified exons. Electrophorsis 15:159-164, 1994. [Link to article (PubMed)]

Oetting, W. S. and King R. A. Molecular basis of oculocutaneous albinism. Journal of Investigative Dermatology 103:131S-136S, 1994. [Link to article (PubMd)]

Oetting, W. S., Fryer, J. P. King, R.A. Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Human Mutation 12:433-434, 1998. [Link to article (PubMed)] [Link to article (Human Mutation)]

Oetting, W. S., King, R. A. Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism. Human Mutation 13:99-115, 1999. [Link to article (PubMed)]

Opitz, S., Kasmann-Kellner, B., Kaufmann, M., Schwinger, E., Zuhlke, C. Detection of 53 Novel DNA Variations Within the Tyrosinase Gene and Accumulation of Mutations in 17 Patients with Albinism. Human Mutation 23:630-631, 2004. [Link to article (PubMed)].

Park, K. C., Chintamaneni, C. D., Halaban R., Witkop, C. J. Jr., Kwon, B.S. Molecular analysis of a tyrosinase-negative albino family. American Journal of Human Genetics 52:406-413, 1993. [Link to article (PubMed)]

Park, K. C., Kim, K. H., Lee, Y. S., Kwon, B. S. Single-strand conformation polymorphism analysis of point mutation in a tyrosinase-negative oculocutaneous albinism. Journal of Inherited Metabolic Diseases 17:123-126, 1994. [Link to article (PubMed)]

Park, S-T., Park, S-K., Lee, H., Lee, J-S., Park, Y-W. DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA1). Japanese Journal of Human Genetics 42:499-505. 1997a. [Link to article (PubMed)]

Park., S-K., Lee, K-H., Park, K-C., Lee, J-S., Spritz, R.A., Lee, S-T. Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism. Molecular Cells 7:187-191, 1997b. [Link to article (PubMed)]

Passmore, L. A., Kaesmann-Kellner, B., Weber, B. H. F. Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. Human Genetics 105:200-210, 1999. [Link to article (PubMed)]

Ray K., Chaki M., Sengupta M. Gene symbol: TYR. Disease: Albinism, oculocutaneous 1. Human Genet 119:675, 2006. [Link to article (PubMed)]

Ray K., Chaki M., Sengupta M. Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1. Progress in Retinal and Eye Research. 26:323-358, 2007. [Link to article (PubMed)].

Santiago Borrero P. J., Rodriguez-Perez Y., Renta J. Y., Izquierdo N. J., Del Fierro L., Munoz D., Molina N. L., Ramirez S., Pagan-Mercado G., Ortiz I., Rivera-Caragol E., Spritz R. A., Cadilla C. L. Genetic Testing for Oculocutaneous Albinism Type 1 and 2 and Hermansky-Pudlak Syndrome Type 1 and 3 Mutations in Puerto Rico. Journal of Investigative Dermatology 126:85-90, 2006. [Link to article (PubMed)]