Paralogue Annotation for SCN5A residue 1165

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1165
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1165

No paralogue variants have been mapped to residue 1165 for SCN5A.



SCN5AQIPDLGQDVKDP------------------>E<DCFTEGCVRR-CPCCAVDTTQAP---GKVW1191
SCN1AQPVVEPEETLEP------------------>E<ACFTEGCVQR-FKCCQINVEEGR---GKQW1204
SCN2AQPEVEPEESLEP------------------>E<ACFTEDCVRK-FKCCQISIEEGK---GKLW1194
SCN3AQAETEPEEDLKP------------------>E<ACFTEGCIKK-FPFCQVSTEEGK---GKIW1192
SCN4AEQAEENPEGEQP------------------>E<ECFTEACVQR-WPCLYVDISQGR---GKKW1017
SCN7AEM----FYGGER------------------>S<KHLKNGCRRG-SSLGQISGASKK---GKIW920
SCN8AVPVEQPEEYLDP------------------>D<ACFTEGCVQR-FKCCQVNIEEGL---GKSW1184
SCN9AEAEAEPMNSDEP------------------>E<ACFTDGCVWR-FSCCQVNIESGK---GKIW1167
SCN10AKIPELADDLEEP------------------>D<DCFTEGCIRH-CPCCKLDTTKSP---WDVG1138
SCN11ALP--EMVPKKQP------------------>E<RCLPKGFGCC-FPCCSVDKRKPP---WVIW1042
CACNA1A---------NHTVVQVNKNANPDPLPKKEE>E<KKEEEEDDRGEDGPK-PMPPYSSMFILSTT1230
CACNA1B---------GEATVVPSGNVD---LESQAE>G<KKEVEADDVMRSGPR-PIVPYSSMFCLSPT1137
CACNA1C---------SEL----------H------->-<---------LKEKAV-PMPEASAFFIFSSN886
CACNA1D---------SEL----------N------->-<---------MKEKIA-PIPEGSAFFILSKT892
CACNA1E----------EASPLKEAEI----REDEEE>V<EKKKQKKEKRETG-K-AMVPHSSMFIFSTT1139
CACNA1F---------QEV----------V------->-<---------PKEKVV-PIPEGSAFFCLSQT857
CACNA1G---------IRA----------R------->-<---------LP-ACCLERDSWSAY-IFPPQ1262
CACNA1H---------LEP----------Y------->-<---------KP-QWCRSREAWALY-LFSPQ1280
CACNA1I---------IDV----------Y------->-<---------KP-DWCEVREDWSVY-LFSPE1156
CACNA1S---------AEL----------Q------->-<---------LKEKAV-PIPEASSFFIFSPT785
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1165Qc.3493G>C Putative BenignSIFT:
Polyphen: