Paralogue Annotation for SCN5A residue 1175

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1175
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 1175

No paralogue variants have been mapped to residue 1175 for SCN5A.

SCN5A	DP------------------EDCFTEGCVR>R<-CPCCAVDTTQAP---GKVWWRLRKTCYHI	1201
SCN1A	EP------------------EACFTEGCVQ>R<-FKCCQINVEEGR---GKQWWNLRRTCFRI	1214
SCN2A	EP------------------EACFTEDCVR>K<-FKCCQISIEEGK---GKLWWNLRKTCYKI	1204
SCN3A	KP------------------EACFTEGCIK>K<-FPFCQVSTEEGK---GKIWWNLRKTCYSI	1202
SCN4A	QP------------------EECFTEACVQ>R<-WPCLYVDISQGR---GKKWWTLRRACFKI	1027
SCN7A	ER------------------SKHLKNGCRR>G<-SSLGQISGASKK---GKIWQNIRKTCCKI	930
SCN8A	DP------------------DACFTEGCVQ>R<-FKCCQVNIEEGL---GKSWWILRKTCFLI	1194
SCN9A	EP------------------EACFTDGCVW>R<-FSCCQVNIESGK---GKIWWNIRKTCYKI	1177
SCN10A	EP------------------DDCFTEGCIR>H<-CPCCKLDTTKSP---WDVGWQVRKTCYRI	1148
SCN11A	QP------------------ERCLPKGFGC>C<-FPCCSVDKRKPP---WVIWWNLRKTCYQI	1052
CACNA1A	HTVVQVNKNANPDPLPKKEEEKKEEEEDDR>G<EDGPK-PMPPYSSMFILSTTNPLRRLCHYI	1240
CACNA1B	EATVVPSGNVD---LESQAEGKKEVEADDV>M<RSGPR-PIVPYSSMFCLSPTNLLRRFCHYI	1147
CACNA1C	EL----------H----------------->L<KEKAV-PMPEASAFFIFSSNNRFRLQCHRI	896
CACNA1D	EL----------N----------------->M<KEKIA-PIPEGSAFFILSKTNPIRVGCHKL	902
CACNA1E	EASPLKEAEI----REDEEEVEKKKQKKEK>R<ETG-K-AMVPHSSMFIFSTTNPIRRACHYI	1149
CACNA1F	EV----------V----------------->P<KEKVV-PIPEGSAFFCLSQTNPLRKGCHTL	867
CACNA1G	RA----------R----------------->L<P-ACCLERDSWSAY-IFPPQSRFRLLCHRI	1272
CACNA1H	EP----------Y----------------->K<P-QWCRSREAWALY-LFSPQNRFRVSCQKV	1290
CACNA1I	DV----------Y----------------->K<P-DWCEVREDWSVY-LFSPENRFRVLCQTI	1166
CACNA1S	EL----------Q----------------->L<KEKAV-PIPEASSFFIFSPTNKIRVLCHRI	795
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1175C	c.3523C>T	Inherited Arrhythmia	LQTS	rs199473200	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Gene symbol: SCN5A. Hum Genet. 2007 120(6):911-2. 17438607
p.R1175H	c.3524G>A	Putative Benign		rs374314562	SIFT: tolerated Polyphen: benign