No paralogue variants have been mapped to residue 352 for SCN5A.
SCN5A | LCGNSSDAG-T-C-PEGYRCLKAGENPDHG>Y<TSFDSFAWAFLALFRLMTQDCWERLYQQTL | 382 |
SCN1A | LCGNSSDAG-Q-C-PEGYMCVKAGRNPNYG>Y<TSFDTFSWAFLSLFRLMTQDFWENLYQLTL | 392 |
SCN2A | LCGNSSDAG-Q-C-PEGYICVKAGRNPNYG>Y<TSFDTFSWAFLSLFRLMTQDFWENLYQLTL | 394 |
SCN3A | LCGNGSDAG-Q-C-PEGYICVKAGRNPNYG>Y<TSFDTFSWAFLSLFRLMTQDYWENLYQLTL | 393 |
SCN4A | LCGNSSDAG-H-C-PEGYECIKTGRNPNYG>Y<TSYDTFSWAFLALFRLMTQDYWENLFQLTL | 416 |
SCN7A | LCGNRTDAG-Q-C-PEGYVCVKAGINPDQG>F<TNFDSFGWALFALFRLMAQDYPEVLYHQIL | 363 |
SCN8A | LCGNSSDAG-Q-C-PEGYQCMKAGRNPNYG>Y<TSFDTFSWAFLALFRLMTQDYWENLYQLTL | 380 |
SCN9A | LCGFSTDSG-Q-C-PEGYTCVKIGRNPDYG>Y<TSFDTFSWAFLALFRLMTQDYWENLYQQTL | 371 |
SCN10A | LCGNGSDSG-H-C-PDGYICLKTSDNPDFN>Y<TSFDSFAWAFLSLFRLMTQDSWERLYQQTL | 366 |
SCN11A | MCGIWMGNS-A-C-SIQYECKHTKINPDYN>Y<TNFDNFGWSFLAMFRLMTQDSWEKLYQQTL | 369 |
CACNA1A | PCGTEEPA-RT-C-PNGTKCQPYWEGPNNG>I<TQFDNILFAVLTVFQCITMEGWTDLLYNSN | 328 |
CACNA1B | PCGKEAPA-RL-C-EGDTECREYWPGPNFG>I<TNFDNILFAILTVFQCITMEGWTDILYNTN | 324 |
CACNA1C | PCALETGHGRQ-CQN-GTVCKPGWDGPKHG>I<TNFDNFAFAMLTVFQCITMEGWTDVLYWVN | 373 |
CACNA1D | PCAFSGNGR-Q-CTANGTECRSGWVGPNGG>I<TNFDNFAFAMLTVFQCITMEGWTDVLYWVN | 374 |
CACNA1E | PCGVQG------C-PAGYEC-KDWIGPNDG>I<TQFDNILFAVLTVFQCITMEGWTTVLYNTN | 319 |
CACNA1F | PCASSGSGR-A-CTLNQTECRGRWPGPNGG>I<TNFDNFFFAMLTVFQCVTMEGWTDVLYWMQ | 340 |
CACNA1G | ---SSNTTC-VNWNQYYTNCSAGEHNPFKG>A<INFDNIGYAWIAIFQVITLEGWVDIMYFVM | 364 |
CACNA1H | GVGAARNAC-INWNQYYNVCRSGDSNPHNG>A<INFDNIGYAWIAIFQVITLEGWVDIMYYVM | 388 |
CACNA1I | QDLNASGLC-VNWNRYYNVCRTGSANPHKG>A<INFDNIGYAWIVIFQVITLEGWVEIMYYVM | 367 |
CACNA1S | PCARTGSGR-R-CTINGSECRGGWPGPNHG>I<THFDNFGFSMLTVYQCITMEGWTDVLYWVN | 302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y352C | c.1055A>G | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | A novel mutation in the SCN5A gene contributes to arrhythmogenic characteristics of early repolarization syndrome. Int J Mol Med. 2016 37(3):727-33. doi: 10.3892/ijmm.2016.2468. 26820605 |