Paralogue Annotation for SCN5A residue 1133

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1133
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 1133

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN10A	D1080N	Brugada syndrome	Low	2	24998131

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.

SCN5A	EASASQADWRQQWKAEPQAPG----CGETP>E<------------------DSCSEGSTADMT	1145
SCN1A	--------------------------KLNE>S<------------------SSSSEGSTVDIG	1160
SCN2A	--------------------------KLN->A<------------------TSSSEGSTVDIG	1149
SCN3A	--------------------------KLN->A<------------------TSSSEGSTVDVV	1147
SCN4A	--------------------------PLY->D<------------------GNSSVCSTADYK	971
SCN7A	--------------------------KIK->Q<------------------SSSSECSTVDIA	880
SCN8A	--------------------------KLD->D<------------------TSSSEGSTIDIK	1140
SCN9A	--------------------------RLN->R<------------------SSSSECSTVDNP	1122
SCN10A	--------------------------GVD->D<------------------TSSSEGSTVDCL	1092
SCN11A	SQRVQSVEIDMFSEDEPHLTIQDPRKKSD->V<-----------------TSILSECSTIDLQ	1000
CACNA1A	TNPQNAASRRTPNNPGNPSNPGPP--KTP->E<NSLIVTNPSGTQTNSAKTARKPDHTTVDIP	1172
CACNA1B	EPHCDLETSGTVTVGPMHTLPSTC--LQK->V<EEQPEDADNQRNVTRMGSQPPDPNTIVHIP	1082
CACNA1C	------------------------------>-<------------------------------
CACNA1D	------------------------------>-<------------------------------
CACNA1E	LSCITAN--------------TDK--ATT->E<STSVTVAIPDVDP-------LVDSTVVHIS	1089
CACNA1F	------------------------------>-<------------------------------
CACNA1G	------------------------------>-<------------------------------
CACNA1H	------------------------------>-<------------------------------
CACNA1I	------------------------------>-<------------------------------
CACNA1S	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 1133 for SCN5A.