Paralogue Annotation for SCN5A residue 1091

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1091
Reference Amino Acid: D - Aspartate
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 1091

No paralogue variants have been mapped to residue 1091 for SCN5A.

SCN5A	------------------GGPEAP-----P>D<SRTWSQVSATASS------EA---------	1106
SCN1A	------------------------------>-<------------------------------
SCN2A	------------------------------>-<------------------------------
SCN3A	------------------------------>-<------------------------------
SCN4A	------------------------------>-<------------------------------
SCN7A	------------------------------>-<------------------------------
SCN8A	------------------------------>-<------------------------------
SCN9A	------------------------------>-<------------------------------
SCN10A	------------------------------>-<------------------------------
SCN11A	------------------------------>-<-------HQENKK------PT---------	957
CACNA1A	DLGRQDPPLAEDIDNMKNNKLATAESAAPH>G<SLGHAGLPQSPAKMGNSTDPGPMLAIPAMA	1114
CACNA1B	--------------------------EKE->-<------ATEKEAEIVEADKEKELR-NHQPR	1024
CACNA1C	-----------------------------E>M<PVGPRP------------------------	859
CACNA1D	-----------------------------E>V<PAGPRP------------------------	865
CACNA1E	------------------------------>-<------MGRVI-------S------QSEPD	1052
CACNA1F	-----------------------------E>E<EGAGGV------------------------	830
CACNA1G	-----------------------------N>L<SKGERV------------------------	1236
CACNA1H	-----------------------------E>D<SCCLRL------------------------	1254
CACNA1I	-----------------------------D>Y<TLCFRV------------------------	1130
CACNA1S	-----------------------------E>I<PLSPRP------------------------	758
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1091A	c.3272A>C	Putative Benign			SIFT: Polyphen: