Albinism, oculocutaneous, type IA
OMIM:203100Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease
Mutations
| Gene Symbol | TYR |
|---|---|
| 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. |
| Gene Symbol | TYR |
|---|---|
| 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. |
| Gene Symbol | TYR |
|---|---|
| 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. |
| Gene Symbol | TYR |
|---|---|
| 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. |