|
| MutDB Position: SWISS:VAR_003621 | |
|
|
SNP Info | Annotation Info | |
|
Gene accession number: | Q15465 |
Swiss-Prot Source: | VAR_003621 |
|
Swiss gene ID: | SHH_HUMAN | | |
|
Phenotype: | in HPE3 | | |
|
Wild type amino acid: | W | | |
|
Mutant amino acid: | R | | |
|
Location: | 117 | | |
|
SIFT Score: (help?) | 0.00 | | | |
SIFT Prediction: | DELETERIOUS | | |
|
Sequence |
| This sequence was derived from Swiss-Prot entry: Q15465 | MLLLARCLLLVLVSSLLVCSGLACGPGRGFGKRRHPKKLTPLAYKQFIPNVAEKTLGASGRYEGKISRNS
ERFKELTPNYNPDIIFKDEENTGADRLMTQRCKDKLNALAISVMNQ [ W -> R ] PGVKLRVTEGWD
EDGHHSEESLHYEGRAVDITTSDRDRSKYGMLARLAVEAGFDWVYYESKAHIHCSVKAENSVAAKSGGCF
PGSATVHLEQGGTKLVKDLSPGDRVLAADDQGRLLYSDFLTFLDRDDGAKKVFYVIETREPRERLLLTAA
HLLFVAPHNDSATGEPEASSGSGPPSGGALGPRALFASRVRPGQRVYVVAERDGDRRLLPAAVHSVTLSE
EAAGAYAPLTAQGTILINRVLASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTDRGGDSGGGDRGGG
GGRVALTAPGAADAPGAGATAGIHWYSQLLYQIGTWLLDSEALHPLGMAVKSS |
|
| |
