Paralogue Annotation for SCN5A residue 352

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 352
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 352

No paralogue variants have been mapped to residue 352 for SCN5A.



SCN5ALCGNSSDAG-T-C-PEGYRCLKAGENPDHG>Y<TSFDSFAWAFLALFRLMTQDCWERLYQQTL382
SCN1ALCGNSSDAG-Q-C-PEGYMCVKAGRNPNYG>Y<TSFDTFSWAFLSLFRLMTQDFWENLYQLTL392
SCN2ALCGNSSDAG-Q-C-PEGYICVKAGRNPNYG>Y<TSFDTFSWAFLSLFRLMTQDFWENLYQLTL394
SCN3ALCGNGSDAG-Q-C-PEGYICVKAGRNPNYG>Y<TSFDTFSWAFLSLFRLMTQDYWENLYQLTL393
SCN4ALCGNSSDAG-H-C-PEGYECIKTGRNPNYG>Y<TSYDTFSWAFLALFRLMTQDYWENLFQLTL416
SCN7ALCGNRTDAG-Q-C-PEGYVCVKAGINPDQG>F<TNFDSFGWALFALFRLMAQDYPEVLYHQIL363
SCN8ALCGNSSDAG-Q-C-PEGYQCMKAGRNPNYG>Y<TSFDTFSWAFLALFRLMTQDYWENLYQLTL380
SCN9ALCGFSTDSG-Q-C-PEGYTCVKIGRNPDYG>Y<TSFDTFSWAFLALFRLMTQDYWENLYQQTL371
SCN10ALCGNGSDSG-H-C-PDGYICLKTSDNPDFN>Y<TSFDSFAWAFLSLFRLMTQDSWERLYQQTL366
SCN11AMCGIWMGNS-A-C-SIQYECKHTKINPDYN>Y<TNFDNFGWSFLAMFRLMTQDSWEKLYQQTL369
CACNA1APCGTEEPA-RT-C-PNGTKCQPYWEGPNNG>I<TQFDNILFAVLTVFQCITMEGWTDLLYNSN328
CACNA1BPCGKEAPA-RL-C-EGDTECREYWPGPNFG>I<TNFDNILFAILTVFQCITMEGWTDILYNTN324
CACNA1CPCALETGHGRQ-CQN-GTVCKPGWDGPKHG>I<TNFDNFAFAMLTVFQCITMEGWTDVLYWVN373
CACNA1DPCAFSGNGR-Q-CTANGTECRSGWVGPNGG>I<TNFDNFAFAMLTVFQCITMEGWTDVLYWVN374
CACNA1EPCGVQG------C-PAGYEC-KDWIGPNDG>I<TQFDNILFAVLTVFQCITMEGWTTVLYNTN319
CACNA1FPCASSGSGR-A-CTLNQTECRGRWPGPNGG>I<TNFDNFFFAMLTVFQCVTMEGWTDVLYWMQ340
CACNA1G---SSNTTC-VNWNQYYTNCSAGEHNPFKG>A<INFDNIGYAWIAIFQVITLEGWVDIMYFVM364
CACNA1HGVGAARNAC-INWNQYYNVCRSGDSNPHNG>A<INFDNIGYAWIAIFQVITLEGWVDIMYYVM388
CACNA1IQDLNASGLC-VNWNRYYNVCRTGSANPHKG>A<INFDNIGYAWIVIFQVITLEGWVEIMYYVM367
CACNA1SPCARTGSGR-R-CTINGSECRGGWPGPNHG>I<THFDNFGFSMLTVYQCITMEGWTDVLYWVN302
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Y352Cc.1055A>G Other Cardiac PhenotypeSIFT:
Polyphen:
ReportsOther 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