No paralogue variants have been mapped to residue 298 for SCN5A.
SCN5A | TN-------------GS---------VEAD>G<LVWESLDLYLSD-PENYLLKNGTSDVLLCG | 327 |
SCN1A | TL-------------IN---------ETVF>E<F---DWKSYIQD-SRYHYFLEGFLDALLCG | 337 |
SCN2A | TT-------------FN---------RTVS>I<F---NWDEYIED-KSHFYFLEGQNDALLCG | 339 |
SCN3A | TF-------------VN---------VTMS>T<F---NWKDYIGD-DSHFYVLDGQKDPLLCG | 338 |
SCN4A | TWYGNEMWYGNDSWYANDTWNSHASWATND>T<F---DWDAYISD-EGNFYFLEGSNDALLCG | 361 |
SCN7A | TLH-------------N---------RTG->-<-----NPYYIRE-TENFYYLEGERYALLCG | 308 |
SCN8A | SY-------------LE---------NGTK>G<F---DWEEYINN-KTNFYTVPGMLEPLLCG | 325 |
SCN9A | TL-------------ES---------IMNT>L<E---SEEDF----RKYFYYLEGSKDALLCG | 316 |
SCN10A | TTN--------------------------->Y<------S-SHRK-PDIYINKRGTSDPLLCG | 311 |
SCN11A | SN---------------------------->-<-----PE---AY-DHCFEKKENSPEFKMCG | 314 |
CACNA1A | ------------------------------>-<---------------------E--SPAPCG | 273 |
CACNA1B | ------------------------------>-<---------------------V--GDFPCG | 269 |
CACNA1C | ------------------------------>-<---------------------D--DPSPCA | 317 |
CACNA1D | ------------------------------>-<---------------------E--DPAPCA | 318 |
CACNA1E | ------------------------------>-<---------------------D--PPHPCG | 269 |
CACNA1F | ------------------------------>-<---------------------E--DPSPCA | 284 |
CACNA1G | SPFICSQPRENG-------MRSCRSVPTLR>G<D---GGGGPPCG-LDYEAYNS--------- | 307 |
CACNA1H | NPFICSSRRDNG-------MQKCSHIPGRR>E<------LRMPCT-LGWEAYTQP--QAEGVG | 331 |
CACNA1I | MPFICSLSGDNG-------IMGCHEIPPLK>E<------QGRECCLSKDDVYDFG--AGRQDL | 310 |
CACNA1S | ------------------------------>-<---------------------E--EPSPCA | 246 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G298S | c.892G>A | Other Cardiac Phenotype | rs137854608 | SIFT: tolerated Polyphen: benign | |
Reports | Other Cardiac Phenotype | Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation. 2002 105(3):341-6. 11804990 | |||
Other Cardiac Phenotype | Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy. Am J Physiol Gastrointest Liver Physiol. 2009 296(2):G211-8. 19056759 | ||||
p.G298D | c.893G>A | Putative Benign | SIFT: Polyphen: |