| AgACC | Ag003439 |
| 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_007684 |
| Comment | Oculocutaneous albinism type IB (OCA-IB) - Defects in TYR are the cause of oculocutaneous albinism type IB; also known as albinism yellow mutant type. OCA-IB patients have white hair at birth that rapidly turns yellow or blond. They manifest the development of minimal-to-moderate amounts of cutaneous and ocular pigment |
| 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 | MNGTMSQVQGSANDPIFLLHHAFVDSIFEQWLRRHRPLQEV |
| Antigen sequence | MNGTMSQVQGSANDPIFLLHDAFVDSIFEQWLRRHRPLQEV |
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