No paralogue variants have been mapped to residue 2135 for CACNA1C.
CACNA1C | -----GCV-----RARGRPSEEELQDSRVY>V<SSL | 2138 |
CACNA1A | --------------------RSPSEGREHM>A<HRQ | 2261 |
CACNA1B | --------------SGGR--ARHSYHHPDQ>D<HWC | 2340 |
CACNA1D | -----E-E-----PDPGR-DEEDLADEMIC>I<TTL | 2181 |
CACNA1E | -----GPG-----PGMMCGAVNNLLSDTEE>D<DKC | 2313 |
CACNA1F | -----E-E-----SILSRFDEEDLGDEMAC>V<HAL | 1977 |
CACNA1G | ------------------------------>-<--P | 2377 |
CACNA1H | YLTVPQ-CPLEKPGSPSA--TPA-PG-GGA>D<DPV | 2353 |
CACNA1I | ------------PQPLPG--ELE-PGDAAS>K<RKR | 2223 |
CACNA1S | -------G-----SSLGSLDQHQGSQETLI>P<PRL | 1873 |
SCN10A | ------------------------TSMELI>A<PGP | 1956 |
SCN11A | ------------------------------>-<--D | 1791 |
SCN1A | ------------------------KG---->-<--K | 2009 |
SCN2A | ------------------------KGKDIR>E<SKK | 2005 |
SCN3A | ------------------------KGKEVR>E<NQK | 2000 |
SCN4A | ------------------------VRPGVK>E<SLV | 1836 |
SCN5A | --------------------DFPPSPDRDR>E<SIV | 2016 |
SCN7A | -----------------------------I>Q<SQI | 1682 |
SCN8A | ------------------------RQKEVR>E<SKC | 1980 |
SCN9A | ------------------------KGKDSK>E<SKK | 1977 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V2135F | c.6403G>T | Putative Benign | SIFT: Polyphen: |