Paralogue Annotation for SCN5A residue 1153

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1153
Reference Amino Acid: Q - Glutamine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1153

No paralogue variants have been mapped to residue 1153 for SCN5A.



SCN5A-----------DSCSEGSTADMTNTAELLE>Q<IPDLGQDVKDP------------------E1165
SCN1A-----------SSSSEGSTVDIGAPVE--E>Q<PVVEPEETLEP------------------E1178
SCN2A-----------TSSSEGSTVDIGAPAEG-E>Q<PEVEPEESLEP------------------E1168
SCN3A-----------TSSSEGSTVDVVLPREG-E>Q<AETEPEEDLKP------------------E1166
SCN4A-----------GNSSVCSTADYKPPEEDPE>E<QAEENPEGEQP------------------E991
SCN7A-----------SSSSECSTVDIAISEEE-->E<M----FYGGER------------------S894
SCN8A-----------TSSSEGSTIDIKPEVE--E>V<PVEQPEEYLDP------------------D1158
SCN9A-----------SSSSECSTVDNPLPGEG-E>E<AEAEPMNSDEP------------------E1141
SCN10A-----------TSSSEGSTVDCLDPEEILR>K<IPELADDLEEP------------------D1112
SCN11A----------TSILSECSTIDLQDGFG--W>L<P--EMVPKKQP------------------E1016
CACNA1APSGTQTNSAKTARKPDHTTVDIPPACPPPL>-<--------NHTVVQVNKNANPDPLPKKEEE1201
CACNA1BDNQRNVTRMGSQPPDPNTIVHIPVMLTGPL>-<--------GEATVVPSGNVD---LESQAEG1108
CACNA1C---------------------------RPL>-<--------SEL----------H--------866
CACNA1D---------------------------RRI>-<--------SEL----------N--------872
CACNA1EIPDVDP-------LVDSTVVHISNKTDG-->-<---------EASPLKEAEI----REDEEEV1111
CACNA1F---------------------------ELL>-<--------QEV----------V--------837
CACNA1G---------------------------RAW>-<--------IRA----------R--------1243
CACNA1H---------------------------HKV>-<--------LEP----------Y--------1261
CACNA1I---------------------------RKM>-<--------IDV----------Y--------1137
CACNA1S---------------------------RPL>-<--------AEL----------Q--------765
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q1153Hc.3459G>C Putative BenignSIFT:
Polyphen: