Mutations of the tyrosinase related protein-1 gene Associated with OCA3

Last update September 8, 2009

Mutations of the tyrosinase related protein-1 gene associated with OCA3.

Polymorphisms of the tyrosinase related protein-1 gene.

Go to this link for a map of mutations of the tyrosinase related protein-1 gene associated with OCA3.

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

Tyrosinase related protein-1 mutations associated with OCA3

Name	Nucleotide Change*	Effect on coding Sequence	Exon	Type	Population		Reference
L36X	c.106delT	Frameshift	EX2	OCA	Caucasian (German)		Rooryck et al., 2006
S166X	c.498C>G	p.Ser166Ter	EX3	Rufus OCA	South African		Manga et al., 1997
T253M	c.758C>T	p.Thr253Met		AROA	Caucasian		Hutton and Spritz, 2008
D308N	c.922G>A	p.Asp308Asn	EX5	Unknown	dbSNP	rs41306053	dbSNP (unpublished)
955delT	c.955delT	Frameshift	EX5	Unknown	dbSNP	rs35197549	dbSNP (unpublished)
R326H	c.977G>A	p.Arg326His	EX5	Unknown	dbSNP	rs16929374	dbSNP (unpublished)
1042delT	c.1042delT	Frameshift	EX5	Unknown	dbSNP	rs35517777	dbSNP (unpublished)
R356Q	c.1066G>A	p.Arg356Gln	EX5	OCA	Caucasian (German)		Rooryck et al., 2006
1104delA	Deletion of A at 1104	Frameshift	EX6	Brown OCA, Rufous OCA	African American, South African		Boissy et al., 1996; Manga et al., 1997
R373X	c.117C>T	p.Arg373Ter	EX6	OCA	Pakistani		Forshew et al., 2005
E413K	c.1237G>A	p.Glu413Lys	EX6	Unknown	dbSNP	rs3202399	dbSNP (unpublished)
M451V	c.1351A>G	p.M451V		AROA	Caucasian		Hutton and Spritz, 2008
G485A	c.1454G>C	p.Gly485Ala	EX8	Unknown	dbSNP	rs41303653	dbSNP (unpublished)
R505C	c.1513C>T	p.Arg505Cys	EX8	Unknown	dbSNP	rs41303651	dbSNP (unpublished)
Y519X	c.1557T>G	p.Tyr519Ter	EX8	Unknown	dbSNP	rs41302073	dbSNP (unpublished)
1584delA	c.1584delA	Frameshift	EX8	Unknown	dbSNP	rs34883117	dbSNP (unpublished)
Q530R	c.1589A>G	p.Gln530Arg	EX8	Unknown	dbSNP	rs41305645	dbSNP (unpublished)

Nucleotide 1 begins at the first nucleotide of codon 1

Polymorphisms of the Tyrosinase related protein-1

Name	Nucleotide Change*	Effect on coding Sequence	Exon	Type	Population	rs#	Reference
IVS1+99T/C	c.500+99T/C	Intron 1	IVS1	Polymorphism	South African		Manga et al., 1997
374C/A	c.374A/C	No change Arg87	EX2	Polymorphism	?	rs34509359	Lynch et al., 2002
627T/A	c.627T/A	No change Gly209	EX3	Polymorphism	South African	rs1800374	Manga et al., 1997
844T/C	c.844T/C	No change Ser243	EX4	Polymorphism	?	rs35866166	Lynch et al., 2002
1144C/T	c.1144C/T	No change Asp343	EX5	Polymorphism	?		Lynch et al., 2002
IVS7-20(delT)	c.1409-20delT	Intron 7	IVS7	Polymorphism	South African		Manga et al., 1997
1500A/C	c.1500A/C	No change Leu500	EX8	Polymorphism	South African	rs34060600	Manga et al., 1997
1737A/C	c.1737A/C	None	3'UTR	Polymorphism	dbSNP	rs683	dbSNP (unpublished)
2467A/C	c.2467A/C	None	3'UTR	Polymorphism	dbSNP	rs910	dbSNP (unpublished)

Nucleotide 1 begins at the fist nucleotide of codon 1

References

Boissy, R. E., Zhao, H., Oetting, W. S., Austin, L. A., Wildenberg, S. C., Boissy, Y., Sturm, R. A., Hearing, V. J., King, R. A., Nordlund, J. J. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: A new subtype of albinism classified as "OCA3". American Jounral of Human Genetics 58:1145-1156, 1996. [Link to article (PubMed)]

Forshew T., Khaliq S., Tee L., Smith U., Johnson C. A., Mehdi SQ., Maher E. R. Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism. Clinical Genetics 68:182-184, 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, 2008. [Link to article (PubMed)]

Lynch, S., Yanage, G., DelBono, E., Wiggs, J. L. DNA sequence variants in the tyrosinase-related protein 1 (TYRP1) gene are not associated with human pigmentary glaucoma. Molecular Vision 8:127-129, 2002. [Link to article (PubMed)]

Manga, P., Kromberg, J. G. R., Box, N. F., Sturm, R. A., Jenkins, T., Ramsay, M. Rufous oculocutaneous albinism in Southern African blacks is caused by mutations in the TRP1 gene. American Journal of Human Genetics 61:1095-1101, 1997. [Link to article (PubMed]

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

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Last changed Sepbember 8, 2009.