Paralogue Annotation for SCN5A residue 433

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 433
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 433

No paralogue variants have been mapped to residue 433 for SCN5A.



SCN5ALVNLILAVVAMAYEEQNQATIAETEEK-EK>R<FQEAMEMLKK------------EHEALTIR451
SCN1ALINLILAVVAMAYEEQNQATLEEAEQK-EA>E<FQQMIEQLKK------------QQEAAQQA461
SCN2ALINLILAVVAMAYEEQNQATLEEAEQK-EA>E<FQQMLEQLKK------------QQEEAQAA463
SCN3ALVNLILAVVAMAYEEQNQATLEEAEQK-EA>E<FQQMLEQLKK------------QQEEAQAV462
SCN4ALINLILAVVAMAYAEQNEATLAEDKEK-EE>E<FQQMLEKFKK------------HQEELEKA485
SCN7AMASLFLGILAMAYEEEKQRVGEISKKI-EP>K<FQQTGKELQE------------GNETDEAK432
SCN8ALVNLILAVVAMAYEEQNQATLEEAEQK-EA>E<FKAMLEQLKK------------QQEEAQAA449
SCN9ALINLILAVVAMAYEEQNQANIEEAKQK-EL>E<FQQMLDRLKK------------EQEEAEAI440
SCN10ALVNLILAVVTMAYEEQNQATTDEIEAK-EK>K<FQEALEMLRK------------EQEVLAAL435
SCN11ALINLTLAVVTMAYEEQNKNVAAEIEAK-EK>M<FQEAQQLLKE------------EKEALVAM438
CACNA1AMLNLVLGVLSGEFAKERERVENRRAFLKLR>R<QQQIERELNG------------YMEWISKA399
CACNA1BMLNLVLGVLSGEFAKERERVENRRAFLKLR>R<QQQIERELNG------------YLEWIFKA395
CACNA1CVLNLVLGVLSGEFSKEREKAKARGDFQKLR>E<KQQLEEDLKG------------YLDWITQA444
CACNA1DVLNLVLGVLSGEFSKEREKAKARGDFQKLR>E<KQQLEEDLKG------------YLDWITQA445
CACNA1EVLNLVLGVLSGEFAKERERVENRRAFMKLR>R<QQQIERELNG------------YRAWIDKA390
CACNA1FVLNLVLGVLSGEFSKEREKAKARGDFQKQR>E<KQQMEEDLRG------------YLDWITQA411
CACNA1GMINLCLVVIATQFSETKQRESQLMREQRVR>F<LSNASTLASFSEPGSCYEELLKYLVYILRK446
CACNA1HMINLCLVVIATQFSETKQRESQLMREQRAR>H<LSNDSTLASFSEPGSCYEELLKYVGHIFRK470
CACNA1IMINLCLVVIATQFSETKQREHRLMLEQRQR>Y<LS-SSTVASYAEPGDCYEEIFQYVCHILRK448
CACNA1SILNLVLGVLSGEFTKEREKAKSRGTFQKLR>E<KQQLDEDLRG------------YMSWITQG373
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R433Cc.1297C>T Putative BenignSIFT: deleterious
Polyphen: probably damaging
p.R433Sc.1297C>A Putative BenignSIFT:
Polyphen: