Paralogue Annotation for SCN5A residue 974

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 974
Reference Amino Acid: K - Lysine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 974

No paralogue variants have been mapped to residue 974 for SCN5A.

SCN5A	LTAP-DEDREM-NNLQL-ALARIQRGLRFV>K<------------------------------	974
SCN1A	LAAT-DDDNEM-NNLQI-AVDRMHKGVAYV>K<------------------------------	1027
SCN2A	LAAT-DDDNEM-NNLQI-AVGRMQKGIDFV>K<------------------------------	1018
SCN3A	LAAT-DDDNEM-NNLQI-AVGRMQKGIDYV>K<------------------------------	1019
SCN4A	LAAS-DEDGEM-NNLQI-AIGRIKLGIGFA>K<------------------------------	837
SCN7A	DVTA-EENNEA-KNLQL-AVARIKKGINYV>L<------------------------------	763
SCN8A	LAAT-DDDGEM-NNLQI-SVIRIKKGVAWT>K<------------------------------	1012
SCN9A	LTAI-EEDPDA-NNLQI-AVTRIKKGINYV>K<------------------------------	992
SCN10A	LTAP-EDDGEV-NNLQV-ALARIQV---FG>H<------------------------------	922
SCN11A	RNGNLEGEARK-TKVQL-ALDRFRRAFCFV>R<------------------------------	847
CACNA1A	LTKDEQEEEEA-ANQKL-ALQKAKEVAEVS>P<LSAANMS--------------IAVKEQQKN	767
CACNA1B	LTKDEEEMEEA-ANQKL-ALQKAKEVAEVS>P<MSAANIS--------------IAA--RQQN	761
CACNA1C	LTSAQKEEEEE-KERKK-LART---AS--->-<-----------------------------P	784
CACNA1D	LNTAQKEEAEE-KERKK-IARK---ES--->-<-----------------------------L	803
CACNA1E	LTKDEQEEEEA-FNQKH-ALQKAKEVSPMS>A<PNMPSIERDRRRRHHMSMWEPRSSHLRERR	770
CACNA1F	-GTAKDKGGEK-SNEKDLPQEN---EG--->-<-----------------------------L	789
CACNA1G	ISKREDASGQL-SCIQL-PVDSQGGDANKS>-<-----------ESE---------------P	1003
CACNA1H	DANRSDTDEDKTSVHFEEDFHKL------->-<------------------------------	1045
CACNA1I	AN-RSYSDEDQSSSNIE-EFDKLQE----->-<------------------------------	893
CACNA1S	LTSAQKAKAEE-KKRRK-MSKGLPDKS--->-<-----------------------------E	695
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K974N	c.2922G>T	Inherited Arrhythmia	BrS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	BrS	Genetic diversity of SCN5A gene and its possible association with the concealed form of Brugada syndrome development in Polish group of patients. Biomed Res Int. 2014 2014:462609. doi: 10.1155/2014/462609. 25401102