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| MutDB Position: SWISS:VAR_001285 | |
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SNP Info | Annotation Info | |
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Gene accession number: | P08686 |
Swiss-Prot Source: | VAR_001285 |
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Swiss gene ID: | CP21A_HUMAN | | |
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Phenotype: | in CAH | | |
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Wild type amino acid: | C | | |
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Mutant amino acid: | Y | | |
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Location: | 169 | | |
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SIFT Score: (help?) | 0.01 | | | |
SIFT Prediction: | DELETERIOUS | | |
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Sequence |
| This sequence was derived from Swiss-Prot entry: P08686 | MLLLGLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPDLPIYLLGLTQKFGPIYRLHLGLQDVVV
LNSKRTIEEAMVKKWADFAGRPEPLTYKLVSKNYPDLSLGDYSLLWKAHKKLTRSALLLGIRDSMEPVVE
QLTQEFCERMRAQPGTPVAIEEEFSLLT [ C -> Y ] SIICYLTFGDKIKDDNLMPAYYKCIQEVLK
TWSHWSIQIVDVIPFLRFFPNPGLRRLKQAIEKRDHIVEMQLRQHKESLVAGQWRDMMDYMLQGVAQPSM
EEGSGQLLEGHVHMAAVDLLIGGTETTANTLSWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDR
ARLPLLNATIAEVLRLRPVVPLALPHRTTRPSSISGYDIPEGTVIIPNLQGAHLDETVWERPHEFWPDRF
LEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLLQAFTLLPSGDALPSLQPLPHCSVILKMQPFQVR
LQPRGMGAHSPGQNQ |
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