Paralogue Annotation for SCN5A residue 971

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 971
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 971

No paralogue variants have been mapped to residue 971 for SCN5A.

SCN5A	ADNLTAP-DEDREM-NNLQL-ALARIQRGL>R<FVK---------------------------	974
SCN1A	ADNLAAT-DDDNEM-NNLQI-AVDRMHKGV>A<YVK---------------------------	1027
SCN2A	SDNLAAT-DDDNEM-NNLQI-AVGRMQKGI>D<FVK---------------------------	1018
SCN3A	SDNLAAT-DDDNEM-NNLQI-AVGRMQKGI>D<YVK---------------------------	1019
SCN4A	ADSLAAS-DEDGEM-NNLQI-AIGRIKLGI>G<FAK---------------------------	837
SCN7A	SCKDVTA-EENNEA-KNLQL-AVARIKKGI>N<YVL---------------------------	763
SCN8A	ADNLAAT-DDDGEM-NNLQI-SVIRIKKGV>A<WTK---------------------------	1012
SCN9A	SDNLTAI-EEDPDA-NNLQI-AVTRIKKGI>N<YVK---------------------------	992
SCN10A	ADNLTAP-EDDGEV-NNLQV-ALARIQV-->-<FGH---------------------------	922
SCN11A	NEERNGNLEGEARK-TKVQL-ALDRFRRAF>C<FVR---------------------------	847
CACNA1A	AQELTKDEQEEEEA-ANQKL-ALQKAKEVA>E<VSPLSAANMS--------------IAVKEQ	764
CACNA1B	AQELTKDEEEMEEA-ANQKL-ALQKAKEVA>E<VSPMSAANIS--------------IAA--R	758
CACNA1C	AESLTSAQKEEEEE-KERKK-LART---AS>-<------------------------------	783
CACNA1D	AESLNTAQKEEAEE-KERKK-IARK---ES>-<------------------------------	802
CACNA1E	AQELTKDEQEEEEA-FNQKH-ALQKAKEVS>P<MSAPNMPSIERDRRRRHHMSMWEPRSSHLR	767
CACNA1F	GDA-GTAKDKGGEK-SNEKDLPQEN---EG>-<------------------------------	788
CACNA1G	AEEISKREDASGQL-SCIQL-PVDSQGGDA>N<KS------------ESE-------------	1002
CACNA1H	AEGDANRSDTDEDKTSVHFEEDFHKL---->-<------------------------------	1045
CACNA1I	EGDAN-RSYSDEDQSSSNIE-EFDKLQE-->-<------------------------------	893
CACNA1S	AESLTSAQKAKAEE-KKRRK-MSKGLPDKS>-<------------------------------	694
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R971C	c.2911C>T	Inherited Arrhythmia	LQTS	rs61737825	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
p.R971G	c.2911C>G	Putative Benign		rs61737825	SIFT: tolerated Polyphen: benign
p.R971S	c.2911C>A	Putative Benign		rs61737825	SIFT: tolerated Polyphen: benign
p.R971H	c.2912G>A	Putative Benign			SIFT: Polyphen: