Paralogue Annotation for SCN5A residue 438

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 438
Reference Amino Acid: M - Methionine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 438

No paralogue variants have been mapped to residue 438 for SCN5A.



SCN5ALAVVAMAYEEQNQATIAETEEK-EKRFQEA>M<EMLKK------------EHEALTIRGVDTV456
SCN1ALAVVAMAYEEQNQATLEEAEQK-EAEFQQM>I<EQLKK------------QQEAAQQAATATA466
SCN2ALAVVAMAYEEQNQATLEEAEQK-EAEFQQM>L<EQLKK------------QQEEAQAAAAAAS468
SCN3ALAVVAMAYEEQNQATLEEAEQK-EAEFQQM>L<EQLKK------------QQEEAQAVAAASA467
SCN4ALAVVAMAYAEQNEATLAEDKEK-EEEFQQM>L<EKFKK------------HQEELEKAKAAQA490
SCN7ALGILAMAYEEEKQRVGEISKKI-EPKFQQT>G<KELQE------------GNETDEAK-----432
SCN8ALAVVAMAYEEQNQATLEEAEQK-EAEFKAM>L<EQLKK------------QQEEAQAAAMATS454
SCN9ALAVVAMAYEEQNQANIEEAKQK-ELEFQQM>L<DRLKK------------EQEEAEAIAAAAA445
SCN10ALAVVTMAYEEQNQATTDEIEAK-EKKFQEA>L<EMLRK------------EQEVLAALGIDTT440
SCN11ALAVVTMAYEEQNKNVAAEIEAK-EKMFQEA>Q<QLLKE------------EKEALVAMGIDRS443
CACNA1ALGVLSGEFAKERERVENRRAFLKLRRQQQI>E<RELNG------------YMEWISKA-EE--401
CACNA1BLGVLSGEFAKERERVENRRAFLKLRRQQQI>E<RELNG------------YLEWIFKA-EE--397
CACNA1CLGVLSGEFSKEREKAKARGDFQKLREKQQL>E<EDLKG------------YLDWITQA-ED--446
CACNA1DLGVLSGEFSKEREKAKARGDFQKLREKQQL>E<EDLKG------------YLDWITQA-ED--447
CACNA1ELGVLSGEFAKERERVENRRAFMKLRRQQQI>E<RELNG------------YRAWIDKA-EE--392
CACNA1FLGVLSGEFSKEREKAKARGDFQKQREKQQM>E<EDLRG------------YLDWITQA-EE--413
CACNA1GLVVIATQFSETKQRESQLMREQRVRFLSNA>S<TLASFSEPGSCYEELLKYLVYILRKAAR--449
CACNA1HLVVIATQFSETKQRESQLMREQRARHLSND>S<TLASFSEPGSCYEELLKYVGHIFRKVKR--473
CACNA1ILVVIATQFSETKQREHRLMLEQRQRYLS-S>S<TVASYAEPGDCYEEIFQYVCHILRKAKR--451
CACNA1SLGVLSGEFTKEREKAKSRGTFQKLREKQQL>D<EDLRG------------YMSWITQG-EV--375
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M438Tc.1313T>C Putative BenignSIFT: deleterious
Polyphen: possibly damaging
p.M438Vc.1312A>G Putative BenignSIFT: deleterious
Polyphen: benign