No paralogue variants have been mapped to residue 350 for SCN5A.
SCN5A | VLLCGNSSDAG-T-C-PEGYRCLKAGENPD>H<GYTSFDSFAWAFLALFRLMTQDCWERLYQQ | 380 |
SCN1A | ALLCGNSSDAG-Q-C-PEGYMCVKAGRNPN>Y<GYTSFDTFSWAFLSLFRLMTQDFWENLYQL | 390 |
SCN2A | ALLCGNSSDAG-Q-C-PEGYICVKAGRNPN>Y<GYTSFDTFSWAFLSLFRLMTQDFWENLYQL | 392 |
SCN3A | PLLCGNGSDAG-Q-C-PEGYICVKAGRNPN>Y<GYTSFDTFSWAFLSLFRLMTQDYWENLYQL | 391 |
SCN4A | ALLCGNSSDAG-H-C-PEGYECIKTGRNPN>Y<GYTSYDTFSWAFLALFRLMTQDYWENLFQL | 414 |
SCN7A | ALLCGNRTDAG-Q-C-PEGYVCVKAGINPD>Q<GFTNFDSFGWALFALFRLMAQDYPEVLYHQ | 361 |
SCN8A | PLLCGNSSDAG-Q-C-PEGYQCMKAGRNPN>Y<GYTSFDTFSWAFLALFRLMTQDYWENLYQL | 378 |
SCN9A | ALLCGFSTDSG-Q-C-PEGYTCVKIGRNPD>Y<GYTSFDTFSWAFLALFRLMTQDYWENLYQQ | 369 |
SCN10A | PLLCGNGSDSG-H-C-PDGYICLKTSDNPD>F<NYTSFDSFAWAFLSLFRLMTQDSWERLYQQ | 364 |
SCN11A | FKMCGIWMGNS-A-C-SIQYECKHTKINPD>Y<NYTNFDNFGWSFLAMFRLMTQDSWEKLYQQ | 367 |
CACNA1A | PAPCGTEEPA-RT-C-PNGTKCQPYWEGPN>N<GITQFDNILFAVLTVFQCITMEGWTDLLYN | 326 |
CACNA1B | DFPCGKEAPA-RL-C-EGDTECREYWPGPN>F<GITNFDNILFAILTVFQCITMEGWTDILYN | 322 |
CACNA1C | PSPCALETGHGRQ-CQN-GTVCKPGWDGPK>H<GITNFDNFAFAMLTVFQCITMEGWTDVLYW | 371 |
CACNA1D | PAPCAFSGNGR-Q-CTANGTECRSGWVGPN>G<GITNFDNFAFAMLTVFQCITMEGWTDVLYW | 372 |
CACNA1E | PHPCGVQG------C-PAGYEC-KDWIGPN>D<GITQFDNILFAVLTVFQCITMEGWTTVLYN | 317 |
CACNA1F | PSPCASSGSGR-A-CTLNQTECRGRWPGPN>G<GITNFDNFFFAMLTVFQCVTMEGWTDVLYW | 338 |
CACNA1G | -----SSNTTC-VNWNQYYTNCSAGEHNPF>K<GAINFDNIGYAWIAIFQVITLEGWVDIMYF | 362 |
CACNA1H | AEGVGAARNAC-INWNQYYNVCRSGDSNPH>N<GAINFDNIGYAWIAIFQVITLEGWVDIMYY | 386 |
CACNA1I | GRQDLNASGLC-VNWNRYYNVCRTGSANPH>K<GAINFDNIGYAWIVIFQVITLEGWVEIMYY | 365 |
CACNA1S | PSPCARTGSGR-R-CTINGSECRGGWPGPN>H<GITHFDNFGFSMLTVYQCITMEGWTDVLYW | 300 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.His350Gln | c.1050C>G | Unknown | SIFT: Polyphen: |