Paralogue Annotation for SCN5A residue 424

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 424
Reference Amino Acid: I - Isoleucine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 424

No paralogue variants have been mapped to residue 424 for SCN5A.



SCN5AMLVIFLGSFYLVNLILAVVAMAYEEQNQAT>I<AETEEK-EKRFQEAMEMLKK----------443
SCN1AVLVIFLGSFYLINLILAVVAMAYEEQNQAT>L<EEAEQK-EAEFQQMIEQLKK----------453
SCN2AVLVIFLGSFYLINLILAVVAMAYEEQNQAT>L<EEAEQK-EAEFQQMLEQLKK----------455
SCN3AVLVIFLGSFYLVNLILAVVAMAYEEQNQAT>L<EEAEQK-EAEFQQMLEQLKK----------454
SCN4AVVIIFLGSFYLINLILAVVAMAYAEQNEAT>L<AEDKEK-EEEFQQMLEKFKK----------477
SCN7AVVVSFLFSFYMASLFLGILAMAYEEEKQRV>G<EISKKI-EPKFQQTGKELQE----------424
SCN8AVLVIFVGSFYLVNLILAVVAMAYEEQNQAT>L<EEAEQK-EAEFKAMLEQLKK----------441
SCN9AVVVIFLGSFYLINLILAVVAMAYEEQNQAN>I<EEAKQK-ELEFQQMLDRLKK----------432
SCN10AVLVIFLGSFYLVNLILAVVTMAYEEQNQAT>T<DEIEAK-EKKFQEALEMLRK----------427
SCN11AIVVIFLGSFYLINLTLAVVTMAYEEQNKNV>A<AEIEAK-EKMFQEAQQLLKE----------430
CACNA1AIPLIIIGSFFMLNLVLGVLSGEFAKERERV>E<NRRAFLKLRRQQQIERELNG----------391
CACNA1BIPLIIIGSFFMLNLVLGVLSGEFAKERERV>E<NRRAFLKLRRQQQIERELNG----------387
CACNA1CVTLIIIGSFFVLNLVLGVLSGEFSKEREKA>K<ARGDFQKLREKQQLEEDLKG----------436
CACNA1DVSLIILGSFFVLNLVLGVLSGEFSKEREKA>K<ARGDFQKLREKQQLEEDLKG----------437
CACNA1EIPLIIIGSFFVLNLVLGVLSGEFAKERERV>E<NRRAFMKLRRQQQIERELNG----------382
CACNA1FVSLVIFGSFFVLNLVLGVLSGEFSKEREKA>K<ARGDFQKQREKQQMEEDLRG----------403
CACNA1GILLIIVGSFFMINLCLVVIATQFSETKQRE>S<QLMREQRVRFLSNASTLASFSEPGSCYEEL436
CACNA1HILLIIVGSFFMINLCLVVIATQFSETKQRE>S<QLMREQRARHLSNDSTLASFSEPGSCYEEL460
CACNA1IILLIIVGSFFMINLCLVVIATQFSETKQRE>H<RLMLEQRQRYLS-SSTVASYAEPGDCYEEI438
CACNA1SVTLILLGSFFILNLVLGVLSGEFTKEREKA>K<SRGTFQKLREKQQLDEDLRG----------365
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I424Mc.1272C>G Putative BenignSIFT: tolerated
Polyphen: probably damaging