Paralogue Annotation for SCN5A residue 413

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 413
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 413

No paralogue variants have been mapped to residue 413 for SCN5A.

SCN5A	SAGKIY-MIFFMLVIFLGSFYLVNLILAVV>A<MAYEEQNQATIAETEEK-EKRFQEAMEMLK	442
SCN1A	AAGKTY-MIFFVLVIFLGSFYLINLILAVV>A<MAYEEQNQATLEEAEQK-EAEFQQMIEQLK	452
SCN2A	AAGKTY-MIFFVLVIFLGSFYLINLILAVV>A<MAYEEQNQATLEEAEQK-EAEFQQMLEQLK	454
SCN3A	AAGKTY-MIFFVLVIFLGSFYLVNLILAVV>A<MAYEEQNQATLEEAEQK-EAEFQQMLEQLK	453
SCN4A	AAGKTY-MIFFVVIIFLGSFYLINLILAVV>A<MAYAEQNEATLAEDKEK-EEEFQQMLEKFK	476
SCN7A	ASGKVY-MIFFVVVSFLFSFYMASLFLGIL>A<MAYEEEKQRVGEISKKI-EPKFQQTGKELQ	423
SCN8A	AAGKTY-MIFFVLVIFVGSFYLVNLILAVV>A<MAYEEQNQATLEEAEQK-EAEFKAMLEQLK	440
SCN9A	AAGKTY-MIFFVVVIFLGSFYLINLILAVV>A<MAYEEQNQANIEEAKQK-ELEFQQMLDRLK	431
SCN10A	TSGKIY-MIFFVLVIFLGSFYLVNLILAVV>T<MAYEEQNQATTDEIEAK-EKKFQEALEMLR	426
SCN11A	TTGLYS-VFFFIVVIFLGSFYLINLTLAVV>T<MAYEEQNKNVAAEIEAK-EKMFQEAQQLLK	429
CACNA1A	ASGNTWNWLYFIPLIIIGSFFMLNLVLGVL>S<GEFAKERERVENRRAFLKLRRQQQIERELN	390
CACNA1B	AAGNTWNWLYFIPLIIIGSFFMLNLVLGVL>S<GEFAKERERVENRRAFLKLRRQQQIERELN	386
CACNA1C	AVGRDWPWIYFVTLIIIGSFFVLNLVLGVL>S<GEFSKEREKAKARGDFQKLREKQQLEEDLK	435
CACNA1D	AIGWEWPWVYFVSLIILGSFFVLNLVLGVL>S<GEFSKEREKAKARGDFQKLREKQQLEEDLK	436
CACNA1E	ALGATWNWLYFIPLIIIGSFFVLNLVLGVL>S<GEFAKERERVENRRAFMKLRRQQQIERELN	381
CACNA1F	AMGYELPWVYFVSLVIFGSFFVLNLVLGVL>S<GEFSKEREKAKARGDFQKQREKQQMEEDLR	402
CACNA1G	AHSF-YNFIYFILLIIVGSFFMINLCLVVI>A<TQFSETKQRESQLMREQRVRFLSNASTLAS	425
CACNA1H	AHSF-YNFIYFILLIIVGSFFMINLCLVVI>A<TQFSETKQRESQLMREQRARHLSNDSTLAS	449
CACNA1I	AHSF-YNFIYFILLIIVGSFFMINLCLVVI>A<TQFSETKQREHRLMLEQRQRYLS-SSTVAS	427
CACNA1S	AIGNEWPWIYFVTLILLGSFFILNLVLGVL>S<GEFTKEREKAKSRGTFQKLREKQQLDEDLR	364
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A413E	c.1238C>A	Inherited Arrhythmia	LQTS	rs199473569	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944
p.A413T	c.1237G>A	Inherited Arrhythmia	LQTS	rs199473110	SIFT: tolerated Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944
p.Ala413Ser	c.1237G>T	Unknown			SIFT: Polyphen: