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| MutDB Position: SWISS:VAR_009163 | |
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SNP Info | Annotation Info | |
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Gene accession number: | Q15465 |
Swiss-Prot Source: | VAR_009163 |
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Swiss gene ID: | SHH_HUMAN | | |
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Phenotype: | in HPE3; familial | | |
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Wild type amino acid: | D | | |
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Mutant amino acid: | V | | |
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Location: | 88 | | |
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SIFT Score: (help?) | 0.00 | | | |
SIFT Prediction: | DELETERIOUS | | |
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Sequence |
| This sequence was derived from Swiss-Prot entry: Q15465 | MLLLARCLLLVLVSSLLVCSGLACGPGRGFGKRRHPKKLTPLAYKQFIPNVAEKTLGASGRYEGKISRNS
ERFKELTPNYNPDIIFK [ D -> V ] EENTGADRLMTQRCKDKLNALAISVMNQWPGVKLRVTEGWD
EDGHHSEESLHYEGRAVDITTSDRDRSKYGMLARLAVEAGFDWVYYESKAHIHCSVKAENSVAAKSGGCF
PGSATVHLEQGGTKLVKDLSPGDRVLAADDQGRLLYSDFLTFLDRDDGAKKVFYVIETREPRERLLLTAA
HLLFVAPHNDSATGEPEASSGSGPPSGGALGPRALFASRVRPGQRVYVVAERDGDRRLLPAAVHSVTLSE
EAAGAYAPLTAQGTILINRVLASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTDRGGDSGGGDRGGG
GGRVALTAPGAADAPGAGATAGIHWYSQLLYQIGTWLLDSEALHPLGMAVKSS |
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