Mutations of the P gene Associated with OCA2

Last update September 8, 2009

Mutations of the P gene associated with OCA2.

Polymorphisms of the P gene.

Go to this link for a map of mutations of the P gene associated with OCA2.

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

P mutations associated with OCA2

Note: In some publications, an extra non-coding exon between exons 18 and 19 is added when determining the exon number.

Note: When looking for mutations, check the list of polymorphisms. There are numerous nonsynomous substitutions in the polymorphism list.

Name	Nucleotide Change*	Effect on coding Sequence	Exon	Population	OMIM/ dbSNP	rs#	Reference
R10W	c.28C>T	p.Arg10Trp	EX2	Japanese			Suzuki et al., 2003b
G27R	c.79G>A	p.Gly27Arg	EX2	Caucasian			Spritz et al., 1997 Garrison et al., 2004 Oetting et al., 2005 Hutton and Spritz, 2008b
163delG	c.193delG	Frameshift	EX2	Caucasian (German)			Passmore et al., 1999
S86R	c.258C>G	p.Ser86Arg	EX3	Caucasian			Oetting et al., 1998
C112F	c.335G>T	p.Cys112Phe	EX4	Caucasian			Oetting et al., 1998
T122I	c.365C>T	p.T122I	EX4	dbSNP (unpublished)		rs34385677	dbSNP
R136Q	c.407C>T	p.Arg136Gln	EX4	dbSNP (unpublished)		rs35764631	dbSNP
482delG	c.482delG	Frameshift	EX4	Caucasian			Spritz et al., 1997 Hutton and Spritz, 2008b
IVS5-19A>G	c.574-19A>G	Splice mutation	IVS5	Tanzanian			Spritz et al., 1995 King et al., 2003b
P198L	c.593C>T	p.Pro198Leu	EX6	Japanese			Suzuki et al., 2003b
W204X	c.612G>A	p.Trp204Ter	EX6	Nothern European			Oetting et al., 2005
615del18	c.615_632del18bp	In frame deletion	EX6	Africian-American			Lee et al., 1994b King et al., 2003b
P211L	c.632C>T	p.Pro211Leu	EX6	Japanese			Suzuki et al., 2003b
delEx7	c.647_807del 161bp	Deletion of Exon 7	EX7	African Associated with BOCA Associated with Angelman Syndrome African Caucasian Puerto Rican	.0001		Durham-Pierre et al., 1994 Manga et al., 2001 King et al., 2003a Garrison et al., 2004 Aquaron et al., 2005 Borrero et al., 2006 Saadeh et al., 2007
NW273KV	c.819-822CTGG>GGTC	p.AsnTrp273_274LysVal	EX8	Africian-American/Dutch			Lee et al., 1994b King et al., 2003a Garrison et al., 2004
R290G	c.868A>G	p.Arg290Gly	EX8	Caucasian (German) Northern European			Passmore et al., 1999 King et al., 2003a
A334V	c. 1001C>T	p.Ala334Val	EX9	African	.0007		Kerr et al., 2000
IVS9+1G>A	c.1044+1G>A	Splice Site	IVS9	Thai-Chinese			Wattanasirichaigoon et al,. 2007
delEx10-20	IVS9+1363-IVS20-6592	122.5kb deletion Del Exons 10-20	IVS9-IVS20	Navajo	.0008		Yi et al., 2003
1047del 7bp	c.1047_1053del7bp	Frameshift	EX10	Northern European			Oetting et al., 1998
1045del-2bp	c.1045_1046delAT	Frameshift	EX10	Caucasian			Oetting et al., 2005
V350M	c.1048G>A	p.Val350Met	EX10	African			Kerr et al., 2000
A368V	c.1103C>T	p.Ala368Val	EX10	Caucasian			Oetting et al., 1998
I370T	c.1109T>C	p.Ile370Thr	EX10	African (polymorphism?)		rs34731820	Kerr et al., 2000
P385I	c.1153T>A	p.Phe385Ile	EX11	Africian-American			Lee et al., 1994b
M394I	c.1182G>A	p.Met394Ile	EX11	Japanese			Suzuki et al., 2003b
M395L	c.1183A>C	p.Met395Leu	EX12	Africian-American			Lee et al., 1994b
T404M	c.1211C>T	p.Thr404Met	EX12	Tanzanian			Spritz et al., 1995
IVS12+5G>A	c.1239+5G>A	Splice Site	IVS12	African-American West Indian Puerto Rican			King et al., 2003a
R419W	c.1255C>T	p.Arg419Trp	EX13	Chinese			Spritz et al., 1997
del1273M	c.1273_1275delATG	p.Met425del	EX13	African-American			Lee et al., 1994b
V443I	c.1327G>A	p.Val443Ile	EX13	Africian-American Caucasian Ashkenazi Jewish, Chinese Netherlands	.0004	rs28934272	Lee et al., 1994b Lee et al., 1994a King et al., 2003a King et al., 2003b Garrison et al., 2004 Oetting et al., 2005 Hongyi et al., 2007 Preising et al., 2007 Hutton and Spritz, 2008a Hutton and Spritz, 2008b
M446V	c.1336A>G	p.Met446Val	EX13	Caucasian			Spritz et al., 1997
I473S	c.1418T>G	p.Ile473Ser	EX14	Chinese			Lee et al., 1994a
N476D	c.1426A>G	p.Asn476Asp	EX14	Chinese			Hongyi et al., 2007 Li et al., 2007
N476S	c.1427A>G	p.Asn746Ser	EX14	Netherlands			Preising et al., 2007
A481T	c.1441G>A	p.Ala481Thr polymorphic	EX14	Caucasian African American Japanese (Angelman Syndrome)	.0003		Lee et al., 1994a Spritz et al., 1997 Saitoh et al., 2000 Suzuki et al., 2003a Suzuki et al., 2003b Kato et al., 2003 Kawai et al., 2005 Ito et al., 2006 Yuasa et al., 2007a Hutton and Spritz, 2008b
N489D	c.1465A>G	p.Asn489Asp	EX14	Caucasian	.0010		Spritz et al., 1997 King et al., 2003a King et al., 2003b Hutton and Spritz, 2008a Hutton and Spritz, 2008b
IVS14-2A>T	c.1501-2A>T	Splice mutation	IVS14	African			Kerr et al., 2000
1555delG	c.1555delG	Frameshift	EX15	Mexican			Oetting et al., 2005
V519A	c.1556T>C	p.Val519Ala	EX15	Northern European			Oetting et al., 2005
IVS15+1G>A	c.1636+1G>A	Splice mutation	IVS15	Japanese			Suzuki et al., 2003b
H549Q	c.1647C>A	p.His549Glu	EX16	Caucasian			Oetting et al., 1998
1757delT	c.1757delT	Frameshift	EX16	Northern European			King et al., 2003b
T592I	c.1775C>T	p.Thr592Ile	EX16	Caucasian		rs1800413	Oetting et al., 1998
IVS16+2T -> C	c.1784+2T>C	Splice mutation	IVS16	Caucasian (German)			Passmore et al., 1999
1835delA	c.1835delA	Frameshift	EX17	African			Kerr et al., 2000
K614E	c.1840A>G	p.Lys614Glu	EX17	Caucasian (German)			Passmore et al., 1999
K614N	c.1842G>T	p.Lys614Asn	EX17	Tanzanian			Spritz et al., 1995
IVS17+1G -> T	c.1842+1G>T	Splice mutation	IVS17	Caucasian	.0002		Lee et al., 1994a Hutton and Spritz, 2008b
I617L	c.1849A>T	p.Ile617Leu	EX18	Caucasian (German)			Passmore et al., 1999
I634N	c.1901T>A	p.Ile634Asn	EX18	Caucasian			Hutton and Spritz, 2008b
I646V	c.1938A>G	p.Ile646Val	EX18	Northern Euroopean			Oetting et al., 2005
1938_1939insC	c.1938_1939insC	Frameshift	EX18	Unknown			Oetting et al., 2005
1951+1G>A	c.1951+1G>A	Splice Mutation	IVS18	Phillippines/Northern European			Oetting et al., 2005
W652R	c.1954T>A	p.Trp652Arg	EX19	Arab			Spritz et al., 1995
1960delG	c.1960delG	Frameshift	EX19	Pakistani	.0006		Lee et al., 1994a
E678K	c.2032G>A	p.Glu678Lys	EX19	African			Kerr et al., 2000
W679R	c.2035T>C	p.Trp679Arg	EX19	African-American			Lee et al., 1994b
W679C	c.2037G>C	p.Trp679Cys	EX19	Caucasian (German)	.0009		Passmore et al., 1999 King et al., 2003a
Unknown	Insertion of T at codon 683 base uncertain	Frameshift	EX19	African			Kerr et al., 2000
2050delT	c.2050delT	Frameshift	EX19	Northern European			Oetting et al., 2005
L688F	c.2062C>T	p.Leu688Phe	EX19	African			Kerr et al., 2000
R720C	c.2158C>T	p.Arg720Cys	EX21	Caucasian (German)			Passmore et al., 1999
A724P	c.2170G>C	p.Ala724Pro	EX21	Caucasian			Oetting et al., 1998
2178del-5bp	c.2178_2182delGTCCT	Frameshift	EX21	Tanzanian			Spritz et al., 1995
Unknown	Insertion of G at codon 727 base uncertain	Frameshift	EX21	African			Kerr et al., 2000
S736L	c.2207C>T	p.Ser736Leu	EX21	Caucasian			Spritz et al., 1997 Garrison et al., 2004 Hutton and Spritz, 2008b
2210delA	c.2210delA	Frameshift	EX21	dbSNP		rs35039405	unpublished
P743L	c.2228C>T	p.Pro743Leu	EX21	Africian-American / Caucasian	.0005		Lee et al., 1994a Lee et al., 1994b King et al., 2003a Hutton and Spritz, 2008b
IVS21-2A>G	c.2245-2A>G	Splice	IVS21	Tanzanian			Spritz et al., 1995
G775R	c.2323G>C	p.Gly775Arg	EX22	Chinese			Hongyi et al., 2007
2336delG	c.2336delG	Frameshift	EX22	Caucasian (German)			Passmore et al., 1999
A787V	c.2360C>T	p.Ala787Val	EX23	Caucasian			Oetting et al., 1998
A787T	c.2360?	p.Ala787Thr	EX23	Chinese			Duan et al., 2006
2372del-2bp	c.2372-2373delTC	Frameshift	EX23	Ashkenazi Jewish			Oetting et al., 2005
2373delCGTdelV792	c.2373_2375delCGT	p.Val833del	EX23	Japanese			Ito et al., 2006
C793F	c.2378G>T	p.Cys793Phe	EX23	Netherlands			Preising et al., 2007
G795R	c.2383G>C	p.Gly795Arg	EX23	Caucasian (German)			Passmore et al., 1999
Q799H	c.2397G>T	p.Gln799His	EX23	Japanese			Kato et al., 2003
IVS23+1G>A	c.2432+1G>A	Splice site	IVS23	Thai-Chinese			Wattanasirichaigoon et al,. 2007
IVS23-1G>C	c.2433-1G>C	Splice site	IVS23	Japanese			Suzuki et al., 2003b
Y827H	c.2479T>C	p.Tyr827His	EX24	Chinese			Hongyi et al., 2007 Li et al., 2007
2498delTGG delV833	c.2498_2500delTGG	p.Val833del	EX24	Caucasian (German)			Passmore et al., 1999

Description	Clinical Phenotype	Reference
6.87 Mb terminal deletion of Chromosome 15(q26.2/qter) region. The P gene (OCA2) is located outside the deleted region.	Relatively mild OCA phenotype: reddish hair at birth turning white later in life, pigmentation of skin, skull hair, eyelashes and eyebrows absent. Ocular findings total iris illumination with fundus hypopigmentation. No nystagmus, nor strabismus, nor foveal dysgenesis suggestive of a fixation defect. Other additional health effects resemble ?Russell-Silver Syndrome?.	Poot et al., 2007
Deletion 15q11.2-q13.1	OCA2 and Prader-Willie Syndrome	Hutton and Spritz, 2008b

Polymorphisms of the P gene

Name	Nucleotide Change*	Effect on coding Sequence	Exon	rs#	Reference
SNP	T/C	Major Haplotype Block	IVS1	OMIM 0.0013 ss7495174	Duffy et al., 2007
SNP	G/T	TGT diplotype=blue or green eye colour	IVS1	OMIM 0.0013 ss6497268	Duffy et al., 2007
SNP	T/C	+ recessive modifier of lighter overall pigmentation	IVS1	OMIM 0.0013 ss11855019	Duffy et al., 2007
48G/A	c.48G/A	No change Ala16	EX2		Suzuki et al., 2003b
111C/T	c.111C/T	No change Arg37	EX2	rs41309258	db SNP (not published)
326+42G/T	c.326+42G/T	None	IVS3		Oetting et al., 1998
516-54T/A	c.516-54T/A	None	IVS4		Oetting et al., 1998
IVS5-53C/G	c.574-53C/G	None	IVS5	ss66538498	Duffy et al., 2007
574-39T/C	c.574-39T/C	None	IVS5	ss66538499	Kerr et al., 2000
574-18C/T	c.574-18C/T	None	IVS5		Lee et al., 1995
P/R241	c.722C/G	p.241Pro/Arg	EX7	rs2305253	Genotyped by HapMap project Duffy et al., 2007
D/A257	c.770A/C	p.257Asp/Ala	EX7	rs1050968	Oetting et al., 1998
R/W266	c.796C/T	p.266Arg/Trp	EX7	rs33929465	dbSNP (not published)
807+23A/T	c.807+23A/T	None	IVS7		Lee et al., 1995
807+25G/C	c.807+25G/C	None	IVS7		Oetting et al., 1998
891-53G/T	c.891-53G/T	None	IVS8		Oetting et al., 2005
R/W305	c.913C/T	p.305Arg/Trp Associated with Brown/Black eyes	EX9	OMIM 0.0011 rs1800401	Lee et al., 1995 Kerr et al., 2000 Jannot et al., 2005 Rebbeck et al., 2002 Aquaron et al., 2007
922C/T	c.922C/T	No change Leu308	EX9	rs1800402	Oetting et al., 1998
963G/A	c.963G/A	No change Gln321	EX9		Kerr et al., 2000
A/V336	c.1007C/T	p.336Ala/Val	EX9	rs34010619	Kerr et al., 2000
1026C/T	c.1026C/T	No change Tyr342	EX9	rs1800403	Lee et al., 1995 Kerr et al., 2000
1064G/A	c.1064G/A	No change Ala355	EX10	rs1800404	Lee et al., 1995 Kerr et al., 2000
1080C/T	c.1080C/T	No change Ser360	EX10		Oetting et al., 2005
I/T370	c.1108T/C	p.370Ile/Thr	EX10	rs34731820	dbSNP (not published)
1113C/T	c.1113C/T	No change Gly371	EX10	rs1800405	Lee et al., 1995
1128G/T	c.1128G/T	No change Leu376	EX11	rs1800406	Oetting et al., 1998
V/M380	c.1138G/A	p.380Val/Met	EX11	rs41529845	Duffy et al., 2007
T/M387	c.1160C/T	p.387Met/Thr	EX11		Suzuki et al., 2003b
IVS11+19G/A	c.1182+19G/A	None	IVS11		Suzuki et al., 2003b
1183-4A/G	c.1183-4A/G	None	IVS11	rs10852218	Lee et al., 1995 Kerr et al., 2000 Saitoh et al., 2000 Kato et al., 2003
1239+19G/A	c.1239+19G/A	None	IVS12		Kerr et al., 2000
R/Q419	c.1256G/A	p.419Arg/Gln Associated with Green/Hazel Eyes & Non-blue eyes	EX13	OMIM 0.0012 rs1800407	Lee et al., 1995 Rebbeck et al., 2002 Duffy et al., 2007
L/F440	c.1320G/C	p.440Leu/Phe	EX13	rs1800408	Lee et al., 1995
1364+4C/A	c.1364+4C/A	None	IVS13	rs1800409	Lee et al., 1995 Kerr et al., 2000
IVS13+25A/G	c.1364+25A/G	None	IVS13		Jannot et al., 2005
1364+26A/G	c.1364+26A/G	None	IVS13	rs1800410	Lee et al., 1995 Kerr et al., 2000 Aquaron et al., 2007
IVS13+122A/G	c.1365+112A/G	None	IVS13	rs1900758	Jannot et al., 2005 Aquaron et al., 2007
IVS13+180C/T	c.1364+180C/T	None	IVS13		Jannot et al., 2005
1365-15C/T	c.1365-15C/T	None	IVS13	ss66538501	Lee et al., 1995 Kerr et al., 2000 Akey et al., 2001
1365-13A/T	c.1365-13A/T	None	IVS13		Oetting et al., 1998 Kerr et al., 2000
1374G/A	c.1374G/A	No Change Gly458	EX14		Lee et al., 1995
A/T481	c.1441G/A	p.481Ala/Thr	EX14		Suzuki et al., 2003a
1503+5G/A	c.1503+5G/A	None	IVS14		Kerr et al., 2000
1503+6G/A	c.1503+6G/A	None	IVS14		Oetting et al., 2005
1551C/T	c.1551C/T	No change Cys517	EX15	rs1800411	Lee et al., 1995 Kerr et al., 2000 Suzuki et al., 2003b
V/A519	c.1556T/C	p.519Val/Ala	EX15	rs41446944	Duffy et al., 2007
I/T544	c.1631T/C	p.544Ile/Thr	EX15	rs34141095	dbSNP (not published)
IVS15+78C/T	c.1636+78C/T	None	IVS15	ss66538503	Duffy et al., 2007
R/H560	c.1679G/A	p.560Arg/His	EX16	rs35110389	dbSNP (not published)
1773C/T	c.1773C/T	No change His591	EX16	rs1800412	Oetting et al., 1998
1784+71G/A	c.1784+71G/A	None	IVS16		Oetting et al., 2005
1784+93A/G	c.1784+931A/G	None	IVS16		Oetting et al., 2005
1785-49C/A	c.1785-49C/A	None	IVS16		Kerr et al., 2000
1785-47A/G	c.1785-47A/G	None	IVS16	rs7170989	Lee et al., 1995 Kerr et al., 2000 Rooryck et al., 2006
H/R615	c.1844A/G	p.615His/Arg	EX18	rs1800414	Lee et al., 1995 Susuki et al., 2003 Yuasa et al., 2007b
1856C/T	c.1856C/T	No change Asp619	EX18	rs7164127	Duffy et al., 2007
1887G/T	c.1887G/T	No change Val629	EX18	rs1800415	Lee et al., 1995 Kerr et al., 2000
1951+24C/G	c.1951+24C/G	None	IVS18		Kerr et al., 2000
IVS18+45G/C	c.1951+45G/C	None	IVS18	ss66538504	Duffy et al., 2007
1952-59T/-	c.1952-59T/-	None	IVS18		Lee et al., 1995
2058A/C	c.2058A/C	No change Ala686	EX19	rs1800416	Lee et al., 1995 Kerr et al., 2000
2080-42delG	c.2080-42delG	None	IVS19		Oetting et al., 2005
2139+7insA_+8	c.2139+7_2139+8insA	None	IVS20		Oetting et al., 2005
2139+22A/T	c.2139+22A/T	None	IVS19		Lee et al., 1995 Kerr et al., 2000
I/T722	c.2165T/C	p.722Ile/Thr	EX21	rs1800417	Lee et al., 1995 Kerr et al., 2000
2208G/A	c.2208G/A	No change Ser736	EX21	rs1800418	Lee et al., 1995 Kerr et al., 2000
2229G/A	c.2229G/A	No change Pro743	EX21	rs41307118	dbSNP (not published)
2235T/C	c.2235T/C	No change Thr745	EX21	rs41301789	dbSNP (not published)
IVS21+18	c.2240+18A/G	None	IVS21	ss66538505	Lee et al., 1995 Kerr et al., 2000 Suzuki et al., 2003b
IVS21+25	c.2240+25G/C	None	IVS21	rs7175046	Lee et al., 1995 Kerr et al., 2000
2245-94T/A	c.2245-94T/A	None	IVS21		Oetting et al., 2005
2328T/C	c.2328T/C	No change Ala776	EX22	rs1800419	Lee et al., 1995 Kerr et al., 2000 Aquaron et al., 2007
2338+37C/T	c.2338+37C/T	None	IVS22		Oetting et al., 2005
IVS22+37T/C	c.2338+75T>C	None	IVS22	rs8025804	Aquaron et al., 2007
2340C/T	c.2340C/T	No change Gly780	EX23	rs1800420	Lee et al., 1995 Kerr et al., 2000 Saitoh et al., 2000 Akey et al., 2001 Kato et al., 2003
2364G/A	c.2364G/A	No change Ser788	EX23	rs12592307	Lee et al., 1995 Kerr et al., 2000 Saitoh et al., 2000 Kato et al., 2003 Suzuki et al., 2003
A/Q789	c.2365_2366GC>CA	p.789Gln/Ala	EX23		Oetting et al., 2005
2385G/T	c.2385G/T	No change Gly795	EX23		Yi et al., 2003 Kato et al., 2003
IVS23+11A/G	c.2432+11A/G	None	IVS23		Suzuki et al., 2003b
2432+21G/A	c.2432+21G/A	None	IVS23		Oetting et al., 2005
834Val/Met	c.2500G/A	p.834Val/Met	EX24	rs34704703	dbSNP (unpublished)
2564G/A	c.2564G/A	None	3'UTR		Oetting et al., 2005

Nucleotide 1 begins at the first nucleotide of codon 1

References

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Endo L.M., Rowe S. M., Romp R.L., Buckmaster M. A., Atkinson T. P. Pulmonary aneurysms and intracardiac thrombi due to Behçet?s disease in an African-American adolescent with oculocutaneous albinism. Clinical Rheumatology 26:1537-9, 2007. [Link to article (PubMed)]

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Ito S., Suzuki T., Inagaki K., Suzuki N., Kono M., Tomita Y. Letter to the Editor - Two novel mutations detected in Japanese patients with oculocutaneous albinism. Journal of Dermatological Science. 44:116-118, 2006. [Link to article (PubMed)]

Jannot A-S., Meziani R., Bertrand G., Gerard B., Descamps V., Archimbaud A., Picard C., Ollivaud L., Basset-Seguin N., Kerob D., Lanternier G., Lebbe C., Saiag P., Crickx B., Clerget-Darpoux F., Grandchamp B., Soufir N., Melan-Cohort. Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. European Journal of Human Genetics. 13:913-920, 2005. [Link to article (PubMed)]

Kato, A., Fukai, K., Oiso, N., Hosomi, N., Saitoh, S., Wada, T., Shimizu, H., Ishii, M. A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2). Journal of Dermatological Science. 31:189-92, 2003. [Link to article (PubMed)]

Kawai M., Suzuki T., Ito S., Inagaki K., Suzuki N., Tomita Y. A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned. Dermatology. 210:322-3, 2005. [Link to article (PubMed)]

Kerr, R., Stevens, G., Manga, P., Salm, S., John, P., Haw, T., Ramsay, M. Identification of P gene mutations in individuals with oculocutaneous albinism in Sub-Saharan Africa. Human Mutation 15:166-172, 2000. [Link to article (PubMed)]

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

King R. A., Willaert R. K., Schmidt R. M., Pietsch J., Savage S., Brott M. J., Fryer J. P., Summers C. G., Oetting W. S. MC1R Mutations Modify the Classic Phenotype of Oculocutaneous Albinism Type 2 (OCA2). American Journal of Human Genetics 73:638-645, 2003a. [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, 2003b. [Link to article (PubMed)]

Lee, S-T, Nicholls, R.D., Bundey, S., Laxova, R. Musarella, M., Spritz, R.A. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi Syndrome plus albinism. The New England Journal of Medicine 330:529-534, 1994a. [Link to article (PubMed)]

Lee, S-T, Nicholls, R.D., Schnur, R.E., Guida, L.C., Lu-Kuo, J., Spinner, N.B., Zackai, E.H., Spritz, R.A. Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Human Molecular Genetics 3:2047-2051, 1994b. [Link to article (PubMed)]

Lee, S-T,. Nicholls, R.A., Jong, M.T.C., Fukai, K., Spritz, R.A. Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics 26:354-363, 1995. [Link to article (PubMed)]

Li H.Y., Wei H.Y., Zheng H., Meng S., Jiang W.Y., Chen L.M., Duan H.L. [Prenatal diagnosis of oculocutaneous albinism type II and discovery of two novel mutations] [Article in Chinese] Zhonghua Yi Xue Za Zhi. 87:1123-5, 2007. [Link to article (PubMed)]

Manga, P., Kromberg, J. G. R., Turner, A., Jenkins, T., Ramsay, M. In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations Identified. American Journal of Human Genetics 68:782-787, 2001. [Link to article (PubMed)]

Oetting, W. S., Gardner, J. P., Fryer, J. P., Ching, A., Durham-Pierre, D., King R.A., Brilliant, M. H. Mutations of the human P gene associated with type II oculocutaneous albinism (OCA2). Human Mutation 12:434, 1998. [Link to article (PubMed)] [Link to abstract at Human Mutation (PDF file also at Human Mutation)]

Oetting W. S., Garrett S. S., Brott M., King R. A. P Gene Mutations Associated with Oculocutaneous Albinism Type II (OCA2). Human Mutation 25:323, 2005. [Link to article (PubMed)] [Link to PDF file also at Human Mutation]

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

Poot M., Eleveld M. J., van ?t Slot R., van Genderen M. M., Verrijn Stuart A. A., Hochstenbach R., Beemer F. A. Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2/qter. European Journal of Medical Genetics 1-9, 2007. [Link to abstract (PubMed)]

Preising MN, Forster H, Tan H, Lorenz B, de Jong PT, Plomp AS. Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches. Mol Vis. 2007 Oct 2;13:1851-5. [Link to abstract (PubMed)]

Rebbeck T. R., Kanetsky P. A., Walker A. H., Holmes R., Halpern A. C., Schuchter L. M., Elder D. E., Guerry D. P Gene as an Inherited Biomarker of Human Eye Colour. Cancer Epidemiology, Biomarkers & Prevention. 11:782-784, 2002. [Link to article (PubMed)]

Rinchik E. M., Bultman S. J., Horsthemke B., Lee S-T., Strunk K. M., Spritz R. A., Avidanoll K. M., Long M. T. C., Nicholls R. D. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 361:72-76, 1993. [Link to article (PubMed)]

Rooryck C., Roudaut C., Robine E., Musebeck J., Arveiler B. Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. Pigment Cell Research. 19:239-242, 2006. [Link to article (PubMed)]

Saadeh R., Lisi E. C., Batista D. A. S., McIntosh I., Hoover-Fong J. E. Albinism and developmental delay: The need to test for 15q11-q13 deletion. Pediatric Neurology 37: 299-302, 2007. [Link to article (PubMed)]

Saitoh S., Oiso N., Wada T., Narazaki O., Fukai K. Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. Journal of Medical Genetics. 37:392-394, 2000. [Link to article (PubMed)]

Spritz, R.A., Fukai, K., Holmes, S.A., Luande, J. Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). American Journal of Human Genetics 56:1320-1323, 1995. [Link to article (PubMed)]

Spritz, R. A., Lee, S-T., Fukai, K., Brondum-Nielsen, K., Chitayat, D., Lipson, M. H., Musarella, M. A., Rosenmann, A., Weleber, R. G. Novel mutations of the P gene in type II oculocutaneous albinism. Human Mutation 10:175-177, 1997 [Link to article (PubMed)]

Suzuki, T., Miyamura, Y., Tomita, Y. High frequency of the Ala481Thr mutation of the P gene in the Japanese population. American Journal of Medical Genetics 118:402-403, 2003a. [Link to article (PubMed)]

Suzuki, T., Miyamura, Y., Matsunaga, J., Shimizu, H., Kawachi, Y., Ohyama, N., Ishikawa, O., Ishikawa, T., Terao, H., Tomita, Y. Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. Journal of Investigative Dermatology 120:781-3, 2003b. [Link to article (PubMed)]

Wattanasirichaigoon D, Suwannarat P, Thongpradit S. Two novel splice mutations of P gene in a Thai-Chinese patient with oculocutaneous albinism type II (OCA2). J Dermatol Sci. 49:98-101, 2008. [Link to article (PubMed)]

Yi, Z., Garrison, N., Cohen-Barak, O., Karafet, T. M., King, R. A., Erickson, R. P., Hammer, M. F., Brilliant, M. H. A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. American Journal of Human Genetics 72:62-72, 2003. [Link to article (PubMed)]

Yuasa I., Umetsu K., Harihara S., Miyoshi A., Saitou N., Park K. S., Dashnyam B., Jin F., Lucotte G., Chattopadhyay P. K., Henke L., Henke J. OCA2*481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations. Journal of Human Genetics 52:690-3, 2007a. [Link to article (PubMed)]

Yuasa I., Umetsu K., Harihara S., Kido A., Miyoshi A., Saitou N., Dashnyam B., Jin F., Lucotte G., Chattopadhyay P. K., Henke L., Henke J. Distribution of Two Asian-Related Coding SNPs in the MC1R and OCA2 Genes. Biochemical Genetics 45:535-42, 2007b. [Link to article (PubMed)]

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Last changed September 8, 2009.