Paralogue Annotation for SCN5A residue 1130

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1130
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1130

No paralogue variants have been mapped to residue 1130 for SCN5A.



SCN5A---EASASQADWRQQWKAEPQAPG----CG>E<TPE------------------DSCSEGSTA1142
SCN1A-----------------------------K>L<NES------------------SSSSEGSTV1157
SCN2A-----------------------------K>L<N-A------------------TSSSEGSTV1146
SCN3A-----------------------------K>L<N-A------------------TSSSEGSTV1144
SCN4A-----------------------------P>L<Y-D------------------GNSSVCSTA968
SCN7A-----------------------------K>I<K-Q------------------SSSSECSTV877
SCN8A-----------------------------K>L<D-D------------------TSSSEGSTI1137
SCN9A-----------------------------R>L<N-R------------------SSSSECSTV1119
SCN10A-----------------------------G>V<D-D------------------TSSSEGSTV1089
SCN11A---SQRVQSVEIDMFSEDEPHLTIQDPRKK>S<D-V-----------------TSILSECSTI997
CACNA1AAMATNPQNAASRRTPNNPGNPSNPGPP--K>T<P-ENSLIVTNPSGTQTNSAKTARKPDHTTV1169
CACNA1BQPREPHCDLETSGTVTVGPMHTLPSTC--L>Q<K-VEEQPEDADNQRNVTRMGSQPPDPNTIV1079
CACNA1C------------------------------>-<------------------------------
CACNA1D------------------------------>-<------------------------------
CACNA1EEPDLSCITAN--------------TDK--A>T<T-ESTSVTVAIPDVDP-------LVDSTVV1086
CACNA1F------------------------------>-<------------------------------
CACNA1G------------------------------>-<------------------------------
CACNA1H------------------------------>-<------------------------------
CACNA1I------------------------------>-<------------------------------
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1130Kc.3388G>A Putative Benignrs369935119SIFT: tolerated
Polyphen: benign