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| MutDB Position: SWISS:VAR_001296 | |
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SNP Info | Annotation Info | |
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Gene accession number: | P08686 |
Swiss-Prot Source: | VAR_001296 |
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Swiss gene ID: | CP21A_HUMAN | | |
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Phenotype: | in CAH; salt wasting form; 0.15% activity | | |
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Wild type amino acid: | R | | |
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Mutant amino acid: | P | | |
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Location: | 356 | | |
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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
QLTQEFCERMRAQPGTPVAIEEEFSLLTCSIICYLTFGDKIKDDNLMPAYYKCIQEVLKTWSHWSIQIVD
VIPFLRFFPNPGLRRLKQAIEKRDHIVEMQLRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQLLEGH
VHMAAVDLLIGGTETTANTLSWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATIA
EVLRL [ R -> P ] PVVPLALPHRTTRPSSISGYDIPEGTVIIPNLQGAHLDETVWERPHEFWPDRF
LEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLLQAFTLLPSGDALPSLQPLPHCSVILKMQPFQVR
LQPRGMGAHSPGQNQ |
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