Paralogue Annotation for SCN5A residue 1158

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1158
Reference Amino Acid: G - Glycine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1158

No paralogue variants have been mapped to residue 1158 for SCN5A.



SCN5A------DSCSEGSTADMTNTAELLEQIPDL>G<QDVKDP------------------EDCFTE1170
SCN1A------SSSSEGSTVDIGAPVE--EQPVVE>P<EETLEP------------------EACFTE1183
SCN2A------TSSSEGSTVDIGAPAEG-EQPEVE>P<EESLEP------------------EACFTE1173
SCN3A------TSSSEGSTVDVVLPREG-EQAETE>P<EEDLKP------------------EACFTE1171
SCN4A------GNSSVCSTADYKPPEEDPEEQAEE>N<PEGEQP------------------EECFTE996
SCN7A------SSSSECSTVDIAISEEE--EM--->-<FYGGER------------------SKHLKN899
SCN8A------TSSSEGSTIDIKPEVE--EVPVEQ>P<EEYLDP------------------DACFTE1163
SCN9A------SSSSECSTVDNPLPGEG-EEAEAE>P<MNSDEP------------------EACFTD1146
SCN10A------TSSSEGSTVDCLDPEEILRKIPEL>A<DDLEEP------------------DDCFTE1117
SCN11A-----TSILSECSTIDLQDGFG--WLP--E>M<VPKKQP------------------ERCLPK1021
CACNA1ATNSAKTARKPDHTTVDIPPACPPPL----->-<---NHTVVQVNKNANPDPLPKKEEEKKEEE1206
CACNA1BVTRMGSQPPDPNTIVHIPVMLTGPL----->-<---GEATVVPSGNVD---LESQAEGKKEVE1113
CACNA1C----------------------RPL----->-<---SEL----------H-------------866
CACNA1D----------------------RRI----->-<---SEL----------N-------------872
CACNA1EP-------LVDSTVVHISNKTDG------->-<----EASPLKEAEI----REDEEEVEKKKQ1116
CACNA1F----------------------ELL----->-<---QEV----------V-------------837
CACNA1G----------------------RAW----->-<---IRA----------R-------------1243
CACNA1H----------------------HKV----->-<---LEP----------Y-------------1261
CACNA1I----------------------RKM----->-<---IDV----------Y-------------1137
CACNA1S----------------------RPL----->-<---AEL----------Q-------------765
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G1158Sc.3472G>A Other Disease PhenotypeSIFT:
Polyphen:
ReportsOther Disease Phenotype Loss-of-function of the voltage-gated sodium channel NaV1.5 (channelopathies) in patients with irritable bowel syndrome. Gastroenterology. 2014 146(7):1659-68. doi: 10.1053/j.gastro.2014.02.054. 24613995