Paralogue Annotation for SCN5A residue 693

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 693
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 693

No paralogue variants have been mapped to residue 693 for SCN5A.



SCN5ACPPC-------------------WNR-LAQ>R<YLIWECCPLWMSIKQGVKLVVMDPFTDLTI723
SCN1ACPPC-------------------WYK-FSN>I<FLIWDCSPYWLKVKHVVNLVVMDPFVDLAI774
SCN2ACPPC-------------------WYK-FAN>M<CLIWDCCKPWLKVKHLVNLVVMDPFVDLAI765
SCN3ACPPC-------------------WYR-FAN>V<FLIWDCCDAWLKVKHLVNLIVMDPFVDLAI766
SCN4ACPPW-------------------WYK-CAH>K<VLIWNCCAPWLKFKNIIHLIVMDPFVDLGI584
SCN7ACPLY-------------------WYK-FAK>T<FLIWNCSPCWLKLKEFVHRIIMAPFTDLFL511
SCN8ACPPC-------------------WYK-FAN>T<FLIWECHPYWIKLKEIVNLIVMDPFVDLAI759
SCN9ACPPW-------------------WYR-FAH>K<FLIWNCSPYWIKFKKCIYFIVMDPFVDLAI739
SCN10ACPPC-------------------LTS-LSQ>K<YLIWDCCPMWVKLKTILFGLVTDPFAELTI671
SCN11ACLPC-------------------GEN-LAS>K<YLVWNCCPQWLCVKKVLRTVMTDPFTELAI583
CACNA1AFARA-------------------SIK-SAK>L<ENSTFFHKKERRMRFYIRRMVKTQAFYWTV493
CACNA1BFARA-------------------SLK-SGK>T<ESSSYFRRKEKMFRFFIRRMVKAQSFYWVV489
CACNA1C-ARL-------------------AHR-ISK>S<KFSRYWRRWNRFCRRKCRAAVKSNVFYWLV530
CACNA1DCRRW-------------------GQA-ISK>S<KLSRRWRRWNRFNRRRCRAAVKSVTFYWLV549
CACNA1ELARA-------------------SIK-SAK>V<DGVSYFRHKERLLRISIRHMVKSQVFYWIV482
CACNA1FCTRC-------------------LNK-IMK>T<RVCRRLRRANRVLRARCRRAVKSNACYWAV535
CACNA1GSRRQ---R------------------SLGP>D<AEPSSVLAFWRLICDTFRKIVDSKYFGRGI749
CACNA1HTRPPRATDTPGPG---PGSPQRRAQQRAAP>G<E-PGWMGRLWVTFSGKLRRIVDSKYFSRGI799
CACNA1IGARS---SEDGASSELG--KEEEEEE-QAD>G<A-VWLCGDVWRETRAKLRGIVDSKYFNRGI646
CACNA1S-----------------------LNK-I-->I<QFIRHWRQWNRIFRWKCHDIVKSKVFYWLV438
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R693Hc.2078G>A Putative BenignSIFT: tolerated
Polyphen: benign
p.R693Cc.2077C>T Putative BenignSIFT: tolerated
Polyphen: benign