Paralogue Annotation for SCN5A residue 1294

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1294
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1294

No paralogue variants have been mapped to residue 1294 for SCN5A.



SCN5ANAWCWLDFLIVDVSLVSLVAN-T----LGF>A<EMGPIKSLRTLRALRPLRALSRFEGMRVVV1324
SCN1ANAWCWLDFLIVDVSLVSLTAN-A----LGY>S<ELGAIKSLRTLRALRPLRALSRFEGMRVVV1337
SCN2ANAWCWLDFLIVDVSLVSLTAN-A----LGY>S<ELGAIKSLRTLRALRPLRALSRFEGMRVVV1327
SCN3ANAWCWLDFLIVDVSLVSLVAN-A----LGY>S<ELGAIKSLRTLRALRPLRALSRFEGMRVVV1325
SCN4ANAWCWLDFLIVDVSIISLVAN-W----LGY>S<ELGPIKSLRTLRALRPLRALSRFEGMRVVV1150
SCN7ANGWYRLDFVVVIVFCLSLIGK-T----RE->-<E---LKPLISMKFLRPLRVLSQFERMKVVV1048
SCN8ANAWCWLDFLIVAVSLVSLIAN-A----LGY>S<ELGAIKSLRTLRALRPLRALSRFEGMRVVV1317
SCN9ANAWCWLDFLIVDVSLVTLVAN-T----LGY>S<DLGPIKSLRTLRALRPLRALSRFEGMRVVV1300
SCN10ANAWCWLDFLIVNISLISLTAK-I----LEY>S<EVAPIKALRTLRALRPLRALSRFEGMRVVV1271
SCN11ASAWCCLDFIIVIVSVTTLI---------N->-<-LMELKSFRTLRALRPLRALSQFEGMKVVV1168
CACNA1ADLWNILDFIVVSGALVAFAFTGN----SKG>K<DINTIKSLRVLRVLRPLKTIKRLPKLKAVF1367
CACNA1BDLWNILDFIVVSGALVAFAFS-G----SKG>K<DINTIKSLRVLRVLRPLKTIKRLPKLKAVF1273
CACNA1CNYFNILDLLVVSVSLISF----G----IQS>S<AINVVKILRVLRVLRPLRAINRAKGLKHVV1019
CACNA1DNYFNLLDMLVVGVSLVSF----G----IQS>S<AISVVKILRVLRVLRPLRAINRAKGLKHVV1025
CACNA1EDLWNILDFVVVVGALVAFALANA-LGTNKG>R<DIKTIKSLRVLRVLRPLKTIKRLPKLKAVF1279
CACNA1FSWFNMLDLLVVSVSLISF----G----IHS>S<AISVVKILRVLRVLRPLRAINRAKGLKHVV990
CACNA1GSSWNVLDGLLVLISVIDILVS-MVSD-SGT>K<ILGMLRVLRLLRTLRPLRVISRAQGLKLVV1402
CACNA1HSSWNLLDGLLVLVSLVDIVVA-MASA-GGA>K<ILGVLRVLRLLRTLRPLRVISRAPGLKLVV1420
CACNA1ISSWNVLDGFLVFVSIIDIVVS-LASA-GGA>K<ILGVLRVLRLLRTLRPLRVISRAPGLKLVV1296
CACNA1SNYFNMLDLLVVAVSLISM----G----LES>S<AISVVKILRVLRVLRPLRAINRAKGLKHVV918
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1294Gc.3881C>G Putative BenignSIFT:
Polyphen: