|
| MutDB Position: SWISS:VAR_009172 | |
|
|
SNP Info | Annotation Info | |
|
Gene accession number: | Q15465 |
Swiss-Prot Source: | VAR_009172 |
|
Swiss gene ID: | SHH_HUMAN | | |
|
Phenotype: | in HPE3; sporadic | | |
|
Wild type amino acid: | G | | |
|
Mutant amino acid: | D | | |
|
Location: | 290 | | |
|
SIFT Score: (help?) | 0.86* | | | |
SIFT Prediction: | TOLERATED | | |
|
Sequence |
| This sequence was derived from Swiss-Prot entry: Q15465 | MLLLARCLLLVLVSSLLVCSGLACGPGRGFGKRRHPKKLTPLAYKQFIPNVAEKTLGASGRYEGKISRNS
ERFKELTPNYNPDIIFKDEENTGADRLMTQRCKDKLNALAISVMNQWPGVKLRVTEGWDEDGHHSEESLH
YEGRAVDITTSDRDRSKYGMLARLAVEAGFDWVYYESKAHIHCSVKAENSVAAKSGGCFPGSATVHLEQG
GTKLVKDLSPGDRVLAADDQGRLLYSDFLTFLDRDDGAKKVFYVIETREPRERLLLTAAHLLFVAPHNDS
ATGEPEASS [ G -> D ] SGPPSGGALGPRALFASRVRPGQRVYVVAERDGDRRLLPAAVHSVTLSE
EAAGAYAPLTAQGTILINRVLASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTDRGGDSGGGDRGGG
GGRVALTAPGAADAPGAGATAGIHWYSQLLYQIGTWLLDSEALHPLGMAVKSS |
|
| |
