No paralogue variants have been mapped to residue 1158 for SCN5A.
SCN5A | ------DSCSEGSTADMTNTAELLEQIPDL>G<QDVKDP------------------EDCFTE | 1170 |
SCN1A | ------SSSSEGSTVDIGAPVE--EQPVVE>P<EETLEP------------------EACFTE | 1183 |
SCN2A | ------TSSSEGSTVDIGAPAEG-EQPEVE>P<EESLEP------------------EACFTE | 1173 |
SCN3A | ------TSSSEGSTVDVVLPREG-EQAETE>P<EEDLKP------------------EACFTE | 1171 |
SCN4A | ------GNSSVCSTADYKPPEEDPEEQAEE>N<PEGEQP------------------EECFTE | 996 |
SCN7A | ------SSSSECSTVDIAISEEE--EM--->-<FYGGER------------------SKHLKN | 899 |
SCN8A | ------TSSSEGSTIDIKPEVE--EVPVEQ>P<EEYLDP------------------DACFTE | 1163 |
SCN9A | ------SSSSECSTVDNPLPGEG-EEAEAE>P<MNSDEP------------------EACFTD | 1146 |
SCN10A | ------TSSSEGSTVDCLDPEEILRKIPEL>A<DDLEEP------------------DDCFTE | 1117 |
SCN11A | -----TSILSECSTIDLQDGFG--WLP--E>M<VPKKQP------------------ERCLPK | 1021 |
CACNA1A | TNSAKTARKPDHTTVDIPPACPPPL----->-<---NHTVVQVNKNANPDPLPKKEEEKKEEE | 1206 |
CACNA1B | VTRMGSQPPDPNTIVHIPVMLTGPL----->-<---GEATVVPSGNVD---LESQAEGKKEVE | 1113 |
CACNA1C | ----------------------RPL----->-<---SEL----------H------------- | 866 |
CACNA1D | ----------------------RRI----->-<---SEL----------N------------- | 872 |
CACNA1E | P-------LVDSTVVHISNKTDG------->-<----EASPLKEAEI----REDEEEVEKKKQ | 1116 |
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 | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G1158S | c.3472G>A | Other Disease Phenotype | SIFT: Polyphen: | ||
Reports | Other 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 |