No paralogue variants have been mapped to residue 1166 for SCN5A.
SCN5A | IPDLGQDVKDP------------------E>D<CFTEGCVRR-CPCCAVDTTQAP---GKVWW | 1192 |
SCN1A | PVVEPEETLEP------------------E>A<CFTEGCVQR-FKCCQINVEEGR---GKQWW | 1205 |
SCN2A | PEVEPEESLEP------------------E>A<CFTEDCVRK-FKCCQISIEEGK---GKLWW | 1195 |
SCN3A | AETEPEEDLKP------------------E>A<CFTEGCIKK-FPFCQVSTEEGK---GKIWW | 1193 |
SCN4A | QAEENPEGEQP------------------E>E<CFTEACVQR-WPCLYVDISQGR---GKKWW | 1018 |
SCN7A | M----FYGGER------------------S>K<HLKNGCRRG-SSLGQISGASKK---GKIWQ | 921 |
SCN8A | PVEQPEEYLDP------------------D>A<CFTEGCVQR-FKCCQVNIEEGL---GKSWW | 1185 |
SCN9A | AEAEPMNSDEP------------------E>A<CFTDGCVWR-FSCCQVNIESGK---GKIWW | 1168 |
SCN10A | IPELADDLEEP------------------D>D<CFTEGCIRH-CPCCKLDTTKSP---WDVGW | 1139 |
SCN11A | P--EMVPKKQP------------------E>R<CLPKGFGCC-FPCCSVDKRKPP---WVIWW | 1043 |
CACNA1A | --------NHTVVQVNKNANPDPLPKKEEE>K<KEEEEDDRGEDGPK-PMPPYSSMFILSTTN | 1231 |
CACNA1B | --------GEATVVPSGNVD---LESQAEG>K<KEVEADDVMRSGPR-PIVPYSSMFCLSPTN | 1138 |
CACNA1C | --------SEL----------H-------->-<--------LKEKAV-PMPEASAFFIFSSNN | 887 |
CACNA1D | --------SEL----------N-------->-<--------MKEKIA-PIPEGSAFFILSKTN | 893 |
CACNA1E | ---------EASPLKEAEI----REDEEEV>E<KKKQKKEKRETG-K-AMVPHSSMFIFSTTN | 1140 |
CACNA1F | --------QEV----------V-------->-<--------PKEKVV-PIPEGSAFFCLSQTN | 858 |
CACNA1G | --------IRA----------R-------->-<--------LP-ACCLERDSWSAY-IFPPQS | 1263 |
CACNA1H | --------LEP----------Y-------->-<--------KP-QWCRSREAWALY-LFSPQN | 1281 |
CACNA1I | --------IDV----------Y-------->-<--------KP-DWCEVREDWSVY-LFSPEN | 1157 |
CACNA1S | --------AEL----------Q-------->-<--------LKEKAV-PIPEASSFFIFSPTN | 786 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D1166N | c.3496G>A | Inherited Arrhythmia | LQTS | rs199473594 | SIFT: tolerated Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | 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 |