Paralogue Annotation for SCN5A residue 1166

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1166
Reference Amino Acid: D - Aspartate
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1166

No paralogue variants have been mapped to residue 1166 for SCN5A.



SCN5AIPDLGQDVKDP------------------E>D<CFTEGCVRR-CPCCAVDTTQAP---GKVWW1192
SCN1APVVEPEETLEP------------------E>A<CFTEGCVQR-FKCCQINVEEGR---GKQWW1205
SCN2APEVEPEESLEP------------------E>A<CFTEDCVRK-FKCCQISIEEGK---GKLWW1195
SCN3AAETEPEEDLKP------------------E>A<CFTEGCIKK-FPFCQVSTEEGK---GKIWW1193
SCN4AQAEENPEGEQP------------------E>E<CFTEACVQR-WPCLYVDISQGR---GKKWW1018
SCN7AM----FYGGER------------------S>K<HLKNGCRRG-SSLGQISGASKK---GKIWQ921
SCN8APVEQPEEYLDP------------------D>A<CFTEGCVQR-FKCCQVNIEEGL---GKSWW1185
SCN9AAEAEPMNSDEP------------------E>A<CFTDGCVWR-FSCCQVNIESGK---GKIWW1168
SCN10AIPELADDLEEP------------------D>D<CFTEGCIRH-CPCCKLDTTKSP---WDVGW1139
SCN11AP--EMVPKKQP------------------E>R<CLPKGFGCC-FPCCSVDKRKPP---WVIWW1043
CACNA1A--------NHTVVQVNKNANPDPLPKKEEE>K<KEEEEDDRGEDGPK-PMPPYSSMFILSTTN1231
CACNA1B--------GEATVVPSGNVD---LESQAEG>K<KEVEADDVMRSGPR-PIVPYSSMFCLSPTN1138
CACNA1C--------SEL----------H-------->-<--------LKEKAV-PMPEASAFFIFSSNN887
CACNA1D--------SEL----------N-------->-<--------MKEKIA-PIPEGSAFFILSKTN893
CACNA1E---------EASPLKEAEI----REDEEEV>E<KKKQKKEKRETG-K-AMVPHSSMFIFSTTN1140
CACNA1F--------QEV----------V-------->-<--------PKEKVV-PIPEGSAFFCLSQTN858
CACNA1G--------IRA----------R-------->-<--------LP-ACCLERDSWSAY-IFPPQS1263
CACNA1H--------LEP----------Y-------->-<--------KP-QWCRSREAWALY-LFSPQN1281
CACNA1I--------IDV----------Y-------->-<--------KP-DWCEVREDWSVY-LFSPEN1157
CACNA1S--------AEL----------Q-------->-<--------LKEKAV-PIPEASSFFIFSPTN786
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D1166Nc.3496G>A Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085