No paralogue variants have been mapped to residue 1186 for SCN5A.
SCN5A | --------EDCFTEGCVRR-CPCCAVDTTQ>A<P---GKVWWRLRKTCYHIVEHSWFETFIIF | 1213 |
SCN1A | --------EACFTEGCVQR-FKCCQINVEE>G<R---GKQWWNLRRTCFRIVEHNWFETFIVF | 1226 |
SCN2A | --------EACFTEDCVRK-FKCCQISIEE>G<K---GKLWWNLRKTCYKIVEHNWFETFIVF | 1216 |
SCN3A | --------EACFTEGCIKK-FPFCQVSTEE>G<K---GKIWWNLRKTCYSIVEHNWFETFIVF | 1214 |
SCN4A | --------EECFTEACVQR-WPCLYVDISQ>G<R---GKKWWTLRRACFKIVEHNWFETFIVF | 1039 |
SCN7A | --------SKHLKNGCRRG-SSLGQISGAS>K<K---GKIWQNIRKTCCKIVENNWFKCFIGL | 942 |
SCN8A | --------DACFTEGCVQR-FKCCQVNIEE>G<L---GKSWWILRKTCFLIVEHNWFETFIIF | 1206 |
SCN9A | --------EACFTDGCVWR-FSCCQVNIES>G<K---GKIWWNIRKTCYKIVEHSWFESFIVL | 1189 |
SCN10A | --------DDCFTEGCIRH-CPCCKLDTTK>S<P---WDVGWQVRKTCYRIVEHSWFESFIIF | 1160 |
SCN11A | --------ERCLPKGFGCC-FPCCSVDKRK>P<P---WVIWWNLRKTCYQIVKHSWFESFIIF | 1064 |
CACNA1A | DPLPKKEEEKKEEEEDDRGEDGPK-PMPPY>S<SMFILSTTNPLRRLCHYILNLRYFEMCILM | 1252 |
CACNA1B | --LESQAEGKKEVEADDVMRSGPR-PIVPY>S<SMFCLSPTNLLRRFCHYIVTMRYFEVVILV | 1159 |
CACNA1C | H-----------------LKEKAV-PMPEA>S<AFFIFSSNNRFRLQCHRIVNDTIFTNLILF | 908 |
CACNA1D | N-----------------MKEKIA-PIPEG>S<AFFILSKTNPIRVGCHKLINHHIFTNLILV | 914 |
CACNA1E | --REDEEEVEKKKQKKEKRETG-K-AMVPH>S<SMFIFSTTNPIRRACHYIVNLRYFEMCILL | 1161 |
CACNA1F | V-----------------PKEKVV-PIPEG>S<AFFCLSQTNPLRKGCHTLIHHHVFTNLILV | 879 |
CACNA1G | R-----------------LP-ACCLERDSW>S<AY-IFPPQSRFRLLCHRIITHKMFDHVVLV | 1284 |
CACNA1H | Y-----------------KP-QWCRSREAW>A<LY-LFSPQNRFRVSCQKVITHKMFDHVVLV | 1302 |
CACNA1I | Y-----------------KP-DWCEVREDW>S<VY-LFSPENRFRVLCQTIIAHKLFDYVVLA | 1178 |
CACNA1S | Q-----------------LKEKAV-PIPEA>S<SFFIFSPTNKIRVLCHRIVNATWFTNFILL | 807 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1186T | c.3556G>A | Inherited Arrhythmia | LQTS | rs199473595 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in Japan. Circ Arrhythm Electrophysiol. 2010 3(1):10-7. 19996378 |