Paralogue Annotation for SCN5A residue 1131

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1131
Reference Amino Acid: T - Threonine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 1131

No paralogue variants have been mapped to residue 1131 for SCN5A.

SCN5A	--EASASQADWRQQWKAEPQAPG----CGE>T<PE------------------DSCSEGSTAD	1143
SCN1A	----------------------------KL>N<ES------------------SSSSEGSTVD	1158
SCN2A	----------------------------KL>N<-A------------------TSSSEGSTVD	1147
SCN3A	----------------------------KL>N<-A------------------TSSSEGSTVD	1145
SCN4A	----------------------------PL>Y<-D------------------GNSSVCSTAD	969
SCN7A	----------------------------KI>K<-Q------------------SSSSECSTVD	878
SCN8A	----------------------------KL>D<-D------------------TSSSEGSTID	1138
SCN9A	----------------------------RL>N<-R------------------SSSSECSTVD	1120
SCN10A	----------------------------GV>D<-D------------------TSSSEGSTVD	1090
SCN11A	--SQRVQSVEIDMFSEDEPHLTIQDPRKKS>D<-V-----------------TSILSECSTID	998
CACNA1A	MATNPQNAASRRTPNNPGNPSNPGPP--KT>P<-ENSLIVTNPSGTQTNSAKTARKPDHTTVD	1170
CACNA1B	PREPHCDLETSGTVTVGPMHTLPSTC--LQ>K<-VEEQPEDADNQRNVTRMGSQPPDPNTIVH	1080
CACNA1C	------------------------------>-<------------------------------
CACNA1D	------------------------------>-<------------------------------
CACNA1E	PDLSCITAN--------------TDK--AT>T<-ESTSVTVAIPDVDP-------LVDSTVVH	1087
CACNA1F	------------------------------>-<------------------------------
CACNA1G	------------------------------>-<------------------------------
CACNA1H	------------------------------>-<------------------------------
CACNA1I	------------------------------>-<------------------------------
CACNA1S	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1131I	c.3392C>T	Inherited Arrhythmia	AF	rs199473197	SIFT: tolerated Polyphen: benign
Reports		Inherited Arrhythmia	AF	Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation. 2008 117(15):1927-35. 18378609
p.T1131S	c.3391A>T	Putative Benign		rs371469522	SIFT: tolerated Polyphen: benign