|
| MutDB Position: SWISS:VAR_012821 | |
|
|
SNP Info | Annotation Info | |
|
Gene accession number: | Q16394 |
Swiss-Prot Source: | VAR_012821 |
|
Swiss gene ID: | EXT1_HUMAN | | |
|
Phenotype: | in EXT1; no loss of activity | | |
|
Wild type amino acid: | A | | |
|
Mutant amino acid: | V | | |
|
Location: | 486 | | |
|
SIFT Score: (help?) | 0.61 | | | |
SIFT Prediction: | TOLERATED | | |
|
Sequence |
| This sequence was derived from Swiss-Prot entry: Q16394 | MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPDALRPFVPWDQ
LENEDSSVHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYPQQKGEKIAESYQNILAAIEG
SRFYTSDPSQACLFVLSLDTLDRDQLSPQYVHNLRSKVQSLHLWNNGRNHLIFNLYSGTWPDYTEDVGFD
IGQAMLAKASISTENFRPNFDVSIPLFSKDHPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTR
NALYHVHNGEDVVLLTTCKHGKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRFLEA
LQAACVPVMLSNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVE
KIVLTTLEIIQDRIFKHISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKFTAVIH [ A -> V ] VTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKHRWPATAVPVVVIEGESKVMSSR
FLPYDNIITDAVLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWDNSKERWGYTSKWTNDYSMV
LTGAAIYHKYYHYLYSHYLPASLKNMVDQLANCEDILMNFLVSAVTKLPPIKVTQKKQYKETMMGQTSRA
SRWADPDHFAQRQSCMNTFASWFGYMPLIHSQMRLDPVLFKDQVSILRKKYRDIERL |
|
| |
