TYR

Gene name: tyrosinase (oculocutaneous albinism IA)
OMIM ID: 606933
Chromosome location: 11q14.3

Mutations

Disease/Phenotype	Albinism, oculocutaneous, type IA
Reference transcript	NM_000372.4
DNA Change	c.1209G>T
A.A. Change	p.Arg403Ser
Exon/Intron	exon 4
Mutation Type	substitution
Reference	Aquaron, R., Badens, C., Berge-Lefranc, J-L., Mansion, P., Mattei, J-F., Philip, N., Zarrouck, K., Naamane, A., Collignon, P., Burle, C., Rollier, B., Denis, D.Oculocutaneous albinism in Maghreb, about 15 cases in Algeria, Morocco and Tunisia Antropo. 2004; 7:55-61.

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Disease/Phenotype	Albinism, oculocutaneous, type IA
Reference transcript	NM_000372.4
DNA Change	c.140G>A
A.A. Change	p.Gly47Asp
Exon/Intron	exon 1
Mutation Type	substitution
Reference	Gershoni-Baruch R, Rosenmann A, Droetto S, Holmes S, Tripathi RK, Spritz RA.Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. Am J Hum Genet. 1994 Apr;54(4):586-94.

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Disease/Phenotype	Albinism, oculocutaneous, type IA
Reference transcript	NM_000372.4
DNA Change	c.823G>T
A.A. Change	p.Val275Phe
Exon/Intron	exon 2
Mutation Type	substitution
Reference	Aquaron, R., Badens, C., Berge-Lefranc, J-L., Mansion, P., Mattei, J-F., Philip, N., Zarrouck, K., Naamane, A., Collignon, P., Burle, C., Rollier, B., Denis, D.Oculocutaneous albinism in Maghreb, about 15 cases in Algeria, Morocco and Tunisia Antropo. 2004; 7:55-61.

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Disease/Phenotype	Albinism, oculocutaneous, type IA
Reference transcript	NM_000372.4
DNA Change	c.980A>G
A.A. Change	p.Tyr327Cys
Exon/Intron	exon 2
Mutation Type	substitution
Reference	Aquaron, R., Badens, C., Berge-Lefranc, J-L., Mansion, P., Mattei, J-F., Philip, N., Zarrouck, K., Naamane, A., Collignon, P., Burle, C., Rollier, B., Denis, D.Oculocutaneous albinism in Maghreb, about 15 cases in Algeria, Morocco and Tunisia Antropo. 2004; 7:55-61.

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