Paralogue Annotation for SCN5A residue 1186

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1186
Reference Amino Acid: A - Alanine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1186

No paralogue variants have been mapped to residue 1186 for SCN5A.



SCN5A--------EDCFTEGCVRR-CPCCAVDTTQ>A<P---GKVWWRLRKTCYHIVEHSWFETFIIF1213
SCN1A--------EACFTEGCVQR-FKCCQINVEE>G<R---GKQWWNLRRTCFRIVEHNWFETFIVF1226
SCN2A--------EACFTEDCVRK-FKCCQISIEE>G<K---GKLWWNLRKTCYKIVEHNWFETFIVF1216
SCN3A--------EACFTEGCIKK-FPFCQVSTEE>G<K---GKIWWNLRKTCYSIVEHNWFETFIVF1214
SCN4A--------EECFTEACVQR-WPCLYVDISQ>G<R---GKKWWTLRRACFKIVEHNWFETFIVF1039
SCN7A--------SKHLKNGCRRG-SSLGQISGAS>K<K---GKIWQNIRKTCCKIVENNWFKCFIGL942
SCN8A--------DACFTEGCVQR-FKCCQVNIEE>G<L---GKSWWILRKTCFLIVEHNWFETFIIF1206
SCN9A--------EACFTDGCVWR-FSCCQVNIES>G<K---GKIWWNIRKTCYKIVEHSWFESFIVL1189
SCN10A--------DDCFTEGCIRH-CPCCKLDTTK>S<P---WDVGWQVRKTCYRIVEHSWFESFIIF1160
SCN11A--------ERCLPKGFGCC-FPCCSVDKRK>P<P---WVIWWNLRKTCYQIVKHSWFESFIIF1064
CACNA1ADPLPKKEEEKKEEEEDDRGEDGPK-PMPPY>S<SMFILSTTNPLRRLCHYILNLRYFEMCILM1252
CACNA1B--LESQAEGKKEVEADDVMRSGPR-PIVPY>S<SMFCLSPTNLLRRFCHYIVTMRYFEVVILV1159
CACNA1CH-----------------LKEKAV-PMPEA>S<AFFIFSSNNRFRLQCHRIVNDTIFTNLILF908
CACNA1DN-----------------MKEKIA-PIPEG>S<AFFILSKTNPIRVGCHKLINHHIFTNLILV914
CACNA1E--REDEEEVEKKKQKKEKRETG-K-AMVPH>S<SMFIFSTTNPIRRACHYIVNLRYFEMCILL1161
CACNA1FV-----------------PKEKVV-PIPEG>S<AFFCLSQTNPLRKGCHTLIHHHVFTNLILV879
CACNA1GR-----------------LP-ACCLERDSW>S<AY-IFPPQSRFRLLCHRIITHKMFDHVVLV1284
CACNA1HY-----------------KP-QWCRSREAW>A<LY-LFSPQNRFRVSCQKVITHKMFDHVVLV1302
CACNA1IY-----------------KP-DWCEVREDW>S<VY-LFSPENRFRVLCQTIIAHKLFDYVVLA1178
CACNA1SQ-----------------LKEKAV-PIPEA>S<SFFIFSPTNKIRVLCHRIVNATWFTNFILL807
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1186Tc.3556G>A Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS 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