Paralogue Annotation for SCN5A residue 501

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 501
Reference Amino Acid: D - Aspartate
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to SCN5A residue 501

No paralogue variants have been mapped to residue 501 for SCN5A.

SCN5A	KRRKR----MS-SGTE-ECGEDRLPKSDSE>D<GPRAM--N-------------------HLS	510
SCN1A	RRKKRKQKEQS-GGEE-KDE-DEFQKSESE>D<SIRRK--GFRFSIEGNRLTYEKRYSSPHQS	555
SCN2A	RRKKKKQKEQS-GEEE-KND--RVRKSESE>D<SIRRK--GFRFSLEGSRLTYEKRFSSPHQS	558
SCN3A	RRKKRRQREHL-EGNN-KGERDSFPKSESE>D<SVKRS--SFLFSMDGNRLTSDKKFCSPHQS	558
SCN4A	----------E-GGEA-DGD---------->-<------------------------------	499
SCN7A	------------------------------>-<------------------------------
SCN8A	RRKKRKQKELS-EGEE-KGDPEKVFKSESE>D<GMRRK--AFRLP-D-NRIG--RKFSIMNQS	546
SCN9A	RRKKKNQKKLS-SGEE-KGDAEKLSKSESE>D<SIRRK--SFHLGVEGHRRAHEKRLSTPNQS	535
SCN10A	RIKPRV----S-EGST-ED--NKSPRSDPY>N<-Q---------------------------R	485
SCN11A	KKRKS----FF-LRES-GKD--QPPGSDSD>E<------------------------------	486
CACNA1A	-------------------GEQRH------>-<------------------------------	415
CACNA1B	-------------------AEEKS------>-<------------------------------	411
CACNA1C	-------------------MD--------->-<------------------------------	457
CACNA1D	-------------------GE--------->-<------------------------------	458
CACNA1E	-------------------AGTSA------>-<------------------------------	406
CACNA1F	-------DNLG-SM-----AE--------->-<------------------------------	430
CACNA1G	-------VGLLSSPAP-LGGQETQPSSSCS>R<SHRRL--SV-HHLVH------HHHHHHHHY	505
CACNA1H	-------RK-KVDPSA-VQGQGPGHRQRRA>G<---RHTASVHHLVYH------HHHHHHHHY	529
CACNA1I	-------QA-L-GPEAPAPAK-PGPHAKEP>R<---HYHGKTKGQGDE------GRHLGSRHC	506
CACNA1S	-------------------KL--------->-<------------------------------	386
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D501G	c.1502A>G	Inherited Arrhythmia	BrS	rs199473117	SIFT: tolerated Polyphen: possibly damaging
Reports		Inherited Arrhythmia	BrS	An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283