Mutations of the tyrosinase gene Associated with OCA1

Last update September 9, 2009

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 Hutton and Spritz, 2008a Hutton and Spritz, 2008b
M1T		c.2T>C	p.Met1Thr	EX1	A	Caucasian		rs281865324	Oetting et al., 1993c
L3P		c.8T>C	p.Leu3Pro	EX1	?	NHLBI-ESP (ESP_Cohort_Populations)		rs375229194	dbSNP
L6M		c.16T>A	p.Leu6Pro	EX1	?	NHLBI-ESP (ESP_Cohort_Populations)		rs370048882	dbSNP
L6F		c.18G>T	p.Leu6Phe	EX1	?	HumanOmni1-Quad		rs76180653	dbSNP
25delC		c.25delC	Frameshift	EX1	A	Caucasian		rs281865524	Spritz et al., 1997 Hutton and Spritz, 2008b
L9P		c.26T>C	p.Leu9Pro	EX1	A	Caucasian			King et al., 2003
47delG		c.47delC	Frameshift	EX1	AROA	Caucasian			Hutton and Spritz, 2008a
52delG		c.52delG	Frameshift	EX1	A	Caucasian Northern European		rs61753176	Oetting et al., 1998 King et al., 2003
H19Q		c.57T>A	p.His19Gln	EX1	A	Caucasian		rs61753177	Oetting et al., 1998
P21S		c.61C>T	p.Pro21Ser	EX1	A	Caucasian	.0023	rs61753178	Tripathi, et al., 1992a King et al., 2003 Hutton and Spritz, 2008b
C24Y		c.71G>A	p.Cys24Tyr	EX1	A	Chinese		rs373333305	Wang et al., 2009
V25F		c73G>T	p.Val25Phe	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)		rs61753179	Passmore et al., 1999
P38T		c.112C>A	p.Pro38Thr	EX1	?	SALONSO08		rs61759520	dbSNP
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)		rs369291837	King et al., 2003
D42N		c.124G>A	p.Asp42Asn	EX1	A	Eastern Indian (West Bengal)		rs200960909	Chaki et al., 2006
del124G		c.124delG	Frameshift	EX1	A	Caucasian			Hutton and Spritz, 2008b
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	Hutton and Spritz, 2008a
P45L		c.134C>T	p.Pro45Leu	EX1	?	NHLBI-ESP (ESP_Cohort_Populations)		rs150788061	dbSNP
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	rs61753180	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 Hutton and Spritz, 2008b
S50X		c.149C>G	p.Ser50X	EX1	A	Arab Christian Lebanese (Muslim)		rs61753181	Gershoni-Baruch et al., 1994 Zahed et al., 2005
R52I		c.155G>T	p.Arg52Ile	EX1	A	Caucasian		rs61753182	Oetting et al., 1998
C55G		c.154T>C	p.Cys55Gly	EX1	?	Somatic mutation (submitted by LGH-UNIANDES)		rs367543067	dbSNP
C55Y		c.164G>A	p.Cys55Tyr	EX1	A	Caucasian	.0020	rs28940879	King et al., 1991 Hutton and Spritz, 2008a Hutton and Spritz, 2008b
Q56H		c.168G>T	p.Gln56His	EX1		in dbSNP (submit by CGAP-GAI)		rs11545464	dbSNP
P64Q		c.191A>C	p.Pro64Gln	EX1	?	NHLBI-ESP (ESP_Cohort_Populations)		rs370798325	dbSNP
Q68H		c.204A>T	p.Gln68His	EX1		German			Opitz et al., 2004
P70S		c.208C>T	p.Pro70Ser	EX1	?	SSMP		rs372689330	dbSNP
V74M		c.220G>A	p.Val74Met	EX1	?	NHLBI-ESP (ESP_Cohort_Populations)		rs374079177	dbSNP
223delG		c.223delG	Frameshift	EX1	A	Caucasian		rs281865523	Oetting et al., 1998
R77W		c.229C>T	p.Arg77Trp	EX1	B	Caucasian European		rs61753184	Spritz et al., 1997 King et al., 2003 Hutton and Spritz, 2008b
R77Q		c.230G>A	p.Arg77Gln	EX1	A	Japanese, Korean, Chinese European, German	.0005 .0010	rs61753185	Takeda et al., 1990 Kikuchi et al., 1990 Park et al., 1997 Tanita et al., 2002 King et al., 2003 Opitz et al., 2004 Wang et al., 2009
231insGGG		c.231_232insGGG	p.Arg77_Glu78delinsArgGlyGlu	EX1	A	Chinese		rs61753187	Tsai et al., 1999 Wang et al., 2009
E78X		c.232G>T	p.Glu78X	EX1	A	Caucasian		rs61753186	Spritz et al., 1997 Hutton and Spritz, 2008b
E78D		c.234G>T	p.Glu78Asp	EX1	?	NHLBI-ESP		rs146481304	dbSNP
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		rs61753188	Spritz et al., 1997 King et al., 2003 Hutton and Spritz, 2008b
W80X		c.240G>A	p.Trp80Ter	EX1	A	Caucasian		rs61753189	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 Hutton and Spritz, 2008a Hutton and Spritz, 2008b
P81S		c.241C>T	p.Pro81Ser	EX1	A/B	Caucasian			King et al., 2003
V83I		c.247G>A	p.Val83Ile	EX1	?	NHLBI-ESP (ESP_Cohort_Populations)		rs149684917	dbSNP
F84V		c.250T>G	p.Phe84Val	EX1	B?	Caucasian			Hutton and Spritz, 2008b
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	dbSNP
C91S		c.272G>C	p.Cys91Ser	EX1	A	Eastern Indian (West Bengal)			Chaki et al., 2006
C91Y		c.272G>A	p.Cys91Tyr	EX1	A	Schmiedeleut (S-leut) Hutterites	.0038	rs137854890	Chong et al., 2012
N94K		c.282C>A	p.Asn94Lys	EX1	?	1000GENOMES		rs200951928	dbSNP
286insA		c.286_287insA	Frameshift	EX1	A	Caucasian	.0018	rs61753190	Oetting et al., 1991c King et al., 2003 Hutton and Spritz, 2008b
G97R		c.289G>A	p.Gly97Arg	EX1	A	Caucasian		rs61753252	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?		rs61753253	Camand et al., 2001
338-339delCA		c.336_337delCA	p.Cys112_Thr113delinsCysArgfs	EX1	A	Caucasian?		rs61753254	Camand et al., 2001 Passmore et al., 1999 Hutton and Spritz, 2008b
344-345delGA		c.344_345delGA	p.Arg115fsX52	EX1	A	Pakistani, Caucasian, German		rs61753255	Oetting et al., 1993a King et al., 2003 Opitz et al., 2004 Hutton and Spritz, 2008b
R116X		c.346C>T	p.Arg116X	EX1	A	Caucasian, Chinese, German		rs61753256	Oetting et al., 1998 King et al., 2003 Opitz et al., 2004 Wang et al., 2009
I123T		c.368T>C	p.Ile123Thr	EX1	A	Caucasian			Hutton and Spritz, 2008b
D125Y		c.373G>T	p.Asp125Tyr	EX1		submit by TOMITA		rs13312741	dbSNP
F134C		c.401T>G	p.Phe134Cys	EX1		SNP500		rs33955261	dbSNP
L138R		c.413T>G	p.Leu138Arg	EX1	?	NHLBI-ESP (ESP_Cohort_Populations)		rs367963483	dbSNP
K142M		c.425A>T	p.Lys142Met	EX1	B	Chinese			Wang et al., 2009
K142N		c.426G>T	p.Lys142Asn	EX1		CGAP-GAI		rs11545463	dbSNP
Y149C		c.446A>G	p.Tyr149Phe	EX1	A	Caucasian			Hutton and Spritz, 2008b
P152S		c.454C>T	p.Pro152Ser	EX1	A	Ashkenazi Jew		rs145513733	Gershoni-Baruch et al., 1994
459insT		c.459_460insT	Frameshift	EX1	A	Caucasian (German)		rs61753258	Passmore et al., 1999
G154E		c.461G>A	p.Gly154Glu	EX1		1000GENOMES		rs200471520	dbSNP
T155S		c.463A>T	p.Thr155Ser	EX1		German			Opitz et al., 2004
G157D		c.470G>A	p.Gly157Asp	EX1		NHLBI-ESP		rs372458096	dbSNP
Q158X		c.472C>T	p.Gln158Ter	EX1		1000GENOMES		rs201700612	dbSNP
F176I		c.526T>A	p.Phe176Ile	EX1	A	Caucasian		rs61753259	Oetting and King, 1992b
V177F		c.529G>T	p.Val177Phe	EX1		German		rs138487695	Opitz et al., 2004
W178X		c.533G>A	p.Trp178Ter	EX1	A	Afgan	.0014	rs61754360	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
Y181C		c.542A>G	p.Tyr181Cys	EX1	A	Caucasian			Hutton and Spritz, 2008b
V183M		c.547G>A	p.Val183Met	EX1		1000GENOMES		rs141930049	dbSNP
S184X		c.551C>G	p.Ser184Ter	EX1		LGH-UNIANDES		rs367543066	dbSNP
572delG		c.572delG	Frameshift	EX1	A	Caucasian	.0015	rs61754361 rs281865525	Oetting et al., 1991c King et al., 2003 Hutton and Spritz, 2008b
573delA		c.573delA	Frameshift	EX1	A	Caucasian (European), Syrian			King et al., 2003
W195X		c.585G>A	pTrp195Ter	EX1		NHLBI-ESP		rs147574809	dbSNP
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
A201V		c.602C>T	p.Ala201Val	EX1		NHLBI-ESP		rs373550309	dbSNP
H202R		c.605A>G	p.His202Arg	EX1	B?	Caucasian			Hutton and Spritz, 2008b
P205T		c.613C>A	p.Pro205Thr	EX1	A	Caucasian European, Armenian			Camand et al., 2001 King et al., 2003 Hutton and Spritz, 2008b
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
P209L		c.626C>T	p.Pro209Leu	EX1		Caucasian			Hutton and Spritz, 2008b
L216M		c.646T>A	p.Leu216Met	EX1	A	Canary Islands	.0036	rs61754363	Oetting et al., 1993b
R212K		c.635G>A	p.Arg212Lys	EX1	A	Caucasian			King et al., 2003
R217G		c.649C>G	p.Arg217Gly	EX1	A	Caucasian		rs63159160	Spritz et al., 1997 Hutton and Spritz, 2008b
R217W		c.649C>T	p.Arg217Trp	EX1	A	Caucasian	.0025	rs63159160	Tripathi, et al., 1992a King et al., 2003 Hutton and Spritz, 2008b
649delC		c.649delC	Frameshift	EX1	A	Ashkenazi/Tunisian/Sephardic Jew		rs61754364	Gershoni-Baruch et al., 1994 King et al., 2003 Hutton and Spritz, 2008b
R217Q		c.650G>A	p.Arg217Gln	EX1	A	Caucasian, European		rs61754365	Oetting and King, 1992b King et al., 2003 Hutton and Spritz, 2008a Hutton and Spritz, 2008b
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		SNP500		rs34878847	dbSNP
Q223R		c.668A>G	p.Gln223Arg	EX1		NHLBI-ESP		rs144018635	dbSNP
678-680delAGG		c.678_680delAGG	Frameshift	EX1	A	Caucasian?			Camand et al., 2001
N230K		c.688C>A	p.Asn230Lys	EX1		NHLBI-ESP		rs150207593	dbSNP
P234T		c700C>A	p.Pro234Thr	EX1		NHLBI-ESP		rs371810580	dbSNP
W236X		c.707G>A	p.Trp236X	EX1	A	African	.0035	rs61754367	Oetting et al., 1993b
W236S		c.707G>C	p.Trp236Ser	EX1	A	Caucasian (German)		rs61754367	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		SNP500		rs36006590	dbSNP
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.730_731delTG	Frameshift	EX1	A	Caucasian French	.0017	rs61754368	Oetting et al., 1991c Coupry et al, 2001 King et al., 2003 Hutton and Spritz, 2008b
C247R		c.739T>C	p.Cys247Arg	EX1		LGH-UNIANDES		rs367543068	dbSNP
M252V		c.754A>G	p.Met252Val	EX1		1000GENOMES		rs201920649	dbSNP
G253R		c.757G>A	p.Gly253Arg	EX1	A	Israeli Arab		rs61754369	Spritz et al., 1997
G253E		c.758G>A	p.Gly263Glu	EX1	A	Caucasian			King et al., 2003
G254S		c.760G>A	p.Gly254Ser	EX1		CLINSEQ_SNP		rs199500520	dbSNP
H256Y		c.766C>T	p.His256Tyr	EX1	A	Caucasian, German, Lebanese		rs61754370	Camand et al., 2001 Opitz et al., 2004 Zahed et al., 2005
P260L		c.779C>T	p.Pro260Leu	EX1		CSHL-HAPMAP		rs11826502	dbSNP
L263I		c.787C>A	p.Leu263Ile	EX1		SALONSO|TYR-3641		rs61759522	dbSNP
A266T		c.796G>A	p.Ala266Thr	EX1		APPLERA		rs34297847	dbSNP
S270F		c.809C>T	p.Ser270Phe	EX1		NHLBI-ESP|ESP6500SI		rs368210899	dbSNP
D271N		c.813G>A	p.Asp271Asn	EX1		German			Opitz et al., 2004
W272C		c.816G>C	p.Trp272Cys	EX1	A	Caucasian (German), Jordanian		rs62645902	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 Wang et al., 2009
V275F		c.823G>T	p.Val275Phe	EX2	B	Caucasian	.0007	rs104894314	Giebel et al., 1991c King et al., 2003 Hutton and Spritz, 2008b
R278X		c.832C>T	p.Arg278X	EX2	A	Indo-Pakistani, Guayanan, Moroccan Jew, Japanese, European, Mexican, Indian, Syrian, Eastern Indian (West Bengal)		rs62645904	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 Wang et al., 2009
841delG		c.841delG	Frameshift	EX2	A	Caucasian (German)		rs281865526	Passmore et al., 1999
E281K		c.841G>A	p.Glu281Lys	EX2		NHLBI-ESP|ESP2500		rs142629239	dbSNP
842delA		c.842delA	p.Glu281fsX37	EX2		German			Opitz et al., 2004
E281G		c.842A>G	p.Glu281Gly	EX2		NHLBI-ESP|ESP2500		rs146036358	dbSNP
Y282C		c.845A>G	p.Tyr282Cys	EX2		NHLBI-ESP|ESP6500SI		rs368011574	dbSNP
N283I		c.848A>T	p.Asn283Ile	EX2		CSHL-HAPMAP		rs11824499	Not published
862delTT		c.862_863delTT	Frameshift	EX2	A	Chinese			Tsai et al., 1999
863delT		c.863delT	Frameshift	EX2	A	Korean			Spritz, 1993
L288S		c.863T>C	p.Leu288Ser	EX2	A	Caucasian			Oetting et al., 1994
l288F		c.864A>T	p.Leu288Phe	EX2	A	Caucasian			Hutton and Spritz, 2008b
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 Hutton and Spritz, 2008b
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 Hutton and Spritz, 2008b Wang et al., 2009
R299H		c.896G>A	p.Arg299His	EX2	A	Caucasian, Arab Christian, Korean	.0026	rs61754375	Tripathi, et al., 1992a Gershoni-Baruch et al., 1994 Park et al., 1997a King et al., 2003 Zahed et al., 2005 Hutton and Spritz, 2008b Wang et al., 2009
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		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 Wang et al., 2009
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 Hutton and Spritz, 2008b
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 Hutton and Spritz, 2008a Hutton and Spritz, 2008b
IVS2-1G>A		c.1037-1G>A	Splice mutation	IVS2	A	Caucasian			Spritz et al., 1997 Hutton and Spritz, 2008a
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 Hutton and Spritz, 2008b
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	rs61754387	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	rs61754388	Spritz et al., 1990 Gershoni-Baruch et al., 1994 King et al., 2003 Opitz et al., 2004 Hutton and Spritz, 2008a Hutton and Spritz, 2008b
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 Hutton and Spritz, 2008b
Q378K		c.1132C>A	p.Gln378Lys	EX3		German			Opitz et al., 2004
S380P		c.1138T>C	p.Ser380Pro	EX3	A	Caucasian			Spritz, 1993 Hutton and Spritz, 2008b
N382K		c.1146C>A	p.Asn382Lys	EX3	A	Caucasian	.0016	rs104894315	Oetting et al., 1991c Hutton and Spritz, 2008b
D383N		c.1147G>A	p.Asp383Asn	EX3	A	Caucasian, Korean	.0004	rs121908011	Spritz et al., 1990 Park et al., 1997b Tanita et al., 2002 King et al., 2003 Opitz et al., 2004 Hutton and Spritz, 2008a Hutton and Spritz, 2008b
1164delT		c.1164delT	p.His389fsX95	EX3	A	Caucasian, German	.0029		Tripathi et al., 1992a Opitz et al., 2004 Hutton and Spritz, 2008b
1167_1168insT		c.1167_1168insT	p.His390fsX4	EX3		German			Opitz et al., 2004
H390D		c.1168C>G	p.His390Asp	EX3	A	Caucasian			Spritz, 1993 Hutton and Spritz, 2008b
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 Hutton and Spritz, 2008b
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 Wang et al., 2009
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 Hutton and Spritz, 2008a Hutton and Spritz, 2008b
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	rs104894316	Tripathi, et al., 1992a Opitz et al., 2004 Hutton and Spritz, 2008b
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	rs104894313	Giebel et al., 1991c Toyofuku et al., 2001 King et al., 2003 Opitz et al., 2004 Chaki et al., 2005b Hutton and Spritz, 2008b
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	rs61754392	King et al., 1991 Tripathi et al., 1993 King et al., 2003 Opitz et al., 2004 Chaki et al., 2006 Hutton and Spritz, 2008b
R422W		c.1264C>T	p.Arg422Trp	EX4	A/B	Caucasian			King et al., 2003
R422Q		c.1265G>A	p.Arg422Gln	EX4	TS	Caucasian	.0012	rs61754393	Giebel et al., 1991b Toyofuku et al., 2001 Opitz et al., 2004 Hutton and Spritz, 2008a
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	rs104894317	Tripathi, et al., 1992a King et al., 2003 Hutton and Spritz, 2008b
D448N		c.1342G>A	p.Asp448Asn	EX4	B	Caucasian	.0032	rs104894318	Tripathi, et al., 1992a King et al., 2003 Opitz et al., 2004 Zahed et al., 2005 Hutton and Spritz, 2008b
Y449C		c.1346A>G	p.Tyr449Cys	EX4	A	Caucasian			King et al., 2003
1348insGG		c.1348_1349insGG	Frameshift	EX4	A	Chinese			Wang et al., 2009
Q453X		c.1357C>T	p.Gln453X	EX4	A	Pakistani			Oetting and King, 1992b
IVS4+4A -> G		c.1366+4A>G	Splice mutation	IVS4	A/B	Caucasian			Spritz, 1993 Hutton and Spritz, 2008b
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
Trp475X		c.1425G>A	p.Trp475X	EX5	A	Chinese			Wang et al., 2009
1467insT		c.1467_1468insT	Frameshift	EX5	A	?	.0033		Chintamaneni et al., 1991 King and Oetting, 1992 King et al., 2003 Opitz et al., 2004 Hutton and Spritz, 2008a Hutton and Spritz, 2008b
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 Hutton and Spritz, 2008b

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	p.Leu2=	EX1	APPLERA	rs35541275		dbSNP
48C/T	c.48C>T	p.Ser16=	EX1	1000GENOMES	rs148710429		dbSNP
96G/A	c.96G>A	p.Glu32=	EX1	NHLBI-ESP (ESP_Cohort_Populations)	rs368867541		dbSNP
114G/A	c.114G/A	p.Pro38=	EX1	TSC-CSHL	rs1939261		dbSNP
120C/T	c.120C/T	p.Ser40=	EX1	NHLBI-ESP (ESP_Cohort_Populations)	rs373294031		dbSNP
129G/A	c.129G/A	p.Arg43=	EX1	NHLBI-ESP (ESP_Cohort_Populations)	rs377546778		dbSNP
178C/T	c.178C/T	p.Leu60=	EX1	iTSC-CSHL	rs1939260		dbSNP
237G/A	c.237G/A	p.Ser79=	EX1	NHLBI-ESP (ESP_Cohort_Populations)	rs376813190		dbSNP
246C/T	c.246C/T	p.Ser82=	EX1	NHLBI-ESP (ESP_Cohort_Populations)	rs139926589		dbSNP
384C/A	c.384C/A	p.Ala128=	EX1	1000GENOMES	rs56414416		dbSNP
393G/A	c.393G/A	p.Lys131=	EX1	SALONSO08	rs61759521		dbSNP
Y/S192	c.575A/C	p.192Tyr/Ser	EX1	Caucasian	rs1042602	.0008	Giebel and Spritz, 1990
834A/C	c.834A/C	p.Arg278=	EX1	KRIBB_YJKIM|	rs79032407		dbSNP
834A/T	c.834A/T	p.Arg278=	EX1	KRIBB_YJKIM|	rs79032407		dbSNP
835C/T	c.835C/T	p.Leu279=	EX2	PERLEGEN	rs4987234		dbSNP
838G/A	c.838G/A	p.Glu280=	EX2	NHLBI-ESP (ESP_Cohort_Populations)	rs375971364		dbSNP
858G/A	c.858G/A	p.Gln286=	EX2	1000GENOMES	rs201641847		dbSNP
1018T/C	c.1018T/C	p.Asn342=	EX2	Lebanese	None		Zahed et al., 2005
1065G/A	c.1065G/A	p.Ala355=	EX3	Ashkenazi Jew	rs1800421		Gershoni-Baruch et al., 1994
1137A/T	c.1137A/T	p.Gly379=	EX3	German	None		Opitz et al., 2004
1167C/T	c.1167C/T	p.His389=	EX3	TOMITA	rs13312743		dbSNP
R/Q402	c.1205G/A	p.402Arg/Gln	EX4	Caucasians	rs1126809	.0009	Tripathi et al., 1991 Hutton and Spritz, 2008a Oetting et al., 2009 Chiang et al., 2009
1206A/C	c.1206A/C	p.Arg402=	EX4	German	None		Opitz et al., 2004
1338C/G	c.1338C/G	p.Gly446=	EX4	German	None		Opitz et al., 2004
1368A/T	c.1368A/T	p.Gly456=	EX5	German	None		Opitz et al., 2004
1413G/A	c.1413G/A	p.Ala471=	EX5	German TYRL co-amplification	rs3913544		Opitz et al., 2004 Chaki et al., 2005b
1446G/C	c.1446G/C	p.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])

Chiang, P.-W., Spector, E., Tsai, A. C.-H. Oculocutaneous albinism spectrum. (Letter) Am. J. Med. Genet. 149A: 1590-1591, 2009. [PubMed: 19533789]

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)]

Chong, J. X., Ouwenga, R., Anderson, R. L., Waggoner, D. J., Ober, C. A population-based study of autosomal-recessive disease-causing mutations in a founder population. Am. J. Hum. Genet. 91: 608-620, 2012. [PubMed: 22981120]

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)]

Hutton SM, Spritz RA. A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. Invest Ophthalmol Vis Sci. 49:868-72, 2008a. [Link to article (PubMed)]

Hutton SM, Spritz RA., Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. Journal of Investigative Dermatology 128:2442-2450, 2008b. [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)]

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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)]

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Last changed September 9, 2009.