| AgACC | Ag003459 |
| Date | 19-08-2008 |
| Last updated | 14-12-2016 |
| Antigen Name | TYR |
| Common Name | Tyrosinase |
| Full Name | Tyrosinase |
| Synonym | Monophenol monooxygenase; Tumor rejection antigen AB; Tyrosinase precursor; tyrosinase (oculocutaneous albinism IA); TYR; EC 1.14.18.1; LB24-AB; OCA1A; OCAIA; SK29-AB
another display format
- Monophenol monooxygenase
- Tumor rejection antigen AB
- Tyrosinase precursor
- tyrosinase (oculocutaneous albinism IA)
- TYR
- EC 1.14.18.1
- LB24-AB
- OCA1A
- OCAIA
- SK29-AB
|
| UniProt ID | P14679
|
| NCBI Gene ID | 7299 |
| GeneCard ID | GC11P089177 |
| SwissProt VARIANT ID | VAR_007691 |
| Comment | Oculocutaneous albinism type I temperature-sensitive (OCA-ITS) - Defects in TYR are the cause of oculocutaneous albinism type I temperature-sensitive. OCA-ITS patients have white axillary and scalp hair and pigmented arm and leg hair. Oculocutaneous albinism type IA (OCA-IA) - Defects in TYR are the cause of oculocutaneous albinism type IA. OCA-I, also known as tyrosinase negative oculocutaneous albinism, is an autosomal recessive disorder characterized by absence of pigment in hair, skin and eyes. OCA-I is divided into 2 types |
| Annotation | This is a fragment sequence. |
| Isoforms | Ag000039, Ag000040
Alignment of all Isoforms |
| Mutation entries | Ag000190, Ag000192, Ag000193, Ag003362, Ag003363, Ag003364, Ag003365, Ag003366, Ag003367, Ag003368, Ag003369, Ag003370, Ag003371, Ag003372, Ag003373, Ag003374
... Display all entries
Ag003375, Ag003376, Ag003377, Ag003378, Ag003379, Ag003380, Ag003381, Ag003382, Ag003383, Ag003384, Ag003385, Ag003386, Ag003387, Ag003388, Ag003389, Ag003390, Ag003391, Ag003392, Ag003393, Ag003394, Ag003395, Ag003396, Ag003397, Ag003398, Ag003399, Ag003400, Ag003401, Ag003402, Ag003403, Ag003404, Ag003405, Ag003406, Ag003407, Ag003408, Ag003409, Ag003410, Ag003411, Ag003412, Ag003413, Ag003414, Ag003415, Ag003416, Ag003417, Ag003418, Ag003419, Ag003420, Ag003421, Ag003422, Ag003423, Ag003424, Ag003425, Ag003426, Ag003427, Ag003428, Ag003429, Ag003430, Ag003431, Ag003432, Ag003433, Ag003434, Ag003435, Ag003436, Ag003437, Ag003438, Ag003439, Ag003440, Ag003441, Ag003442, Ag003443, Ag003444, Ag003445, Ag003446, Ag003447, Ag003448, Ag003449, Ag003450, Ag003451, Ag003452, Ag003453, Ag003454, Ag003455, Ag003456, Ag003457, Ag003458, Ag003459, Ag003460, Ag003461, Ag003462, Ag003463, Ag003464, Ag003465, Ag003466, Ag003467, Ag003468, Ag003469
View mutation map |
| RNA/protein expression profile | RNA and protein Expression profile |
| Predicted HLA binders | |
| Reference sequence | RRHRPLQEVYPEANAPIGHNRESYMVPFIPLYRNGDFFISS |
| Antigen sequence | RRHRPLQEVYPEANAPIGHNQESYMVPFIPLYRNGDFFISS |
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