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| MutDB Position: SWISS:VAR_002373 | |
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SNP Info | Annotation Info | |
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Gene accession number: | Q16394 |
Swiss-Prot Source: | VAR_002373 |
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Swiss gene ID: | EXT1_HUMAN | | |
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Phenotype: | in EXT1; loss of activity; still able to form an oligomeric complex | | |
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Wild type amino acid: | R | | |
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Mutant amino acid: | C | | |
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Location: | 340 | | |
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SIFT Score: (help?) | 0.15 | | | |
SIFT Prediction: | TOLERATED | | |
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Sequence |
| This sequence was derived from Swiss-Prot entry: Q16394 | MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPDALRPFVPWDQ
LENEDSSVHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYPQQKGEKIAESYQNILAAIEG
SRFYTSDPSQACLFVLSLDTLDRDQLSPQYVHNLRSKVQSLHLWNNGRNHLIFNLYSGTWPDYTEDVGFD
IGQAMLAKASISTENFRPNFDVSIPLFSKDHPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTR
NALYHVHNGEDVVLLTTCKHGKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRG [ R -> C ] RLGSFRFLEALQAACVPVMLSNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQ
FLWEAYFSSVEKIVLTTLEIIQDRIFKHISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSK
FTAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKHRWPATAVPVVVIEGESKVMSSR
FLPYDNIITDAVLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWDNSKERWGYTSKWTNDYSMV
LTGAAIYHKYYHYLYSHYLPASLKNMVDQLANCEDILMNFLVSAVTKLPPIKVTQKKQYKETMMGQTSRA
SRWADPDHFAQRQSCMNTFASWFGYMPLIHSQMRLDPVLFKDQVSILRKKYRDIERL |
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