No paralogue variants have been mapped to residue 300 for SCN5A.
SCN5A | -------------GS---------VEADGL>V<WESLDLYLSD-PENYLLKNGTSDVLLCGNS | 329 |
SCN1A | -------------IN---------ETVFEF>-<--DWKSYIQD-SRYHYFLEGFLDALLCGNS | 339 |
SCN2A | -------------FN---------RTVSIF>-<--NWDEYIED-KSHFYFLEGQNDALLCGNS | 341 |
SCN3A | -------------VN---------VTMSTF>-<--NWKDYIGD-DSHFYVLDGQKDPLLCGNG | 340 |
SCN4A | YGNEMWYGNDSWYANDTWNSHASWATNDTF>-<--DWDAYISD-EGNFYFLEGSNDALLCGNS | 363 |
SCN7A | H-------------N---------RTG--->-<---NPYYIRE-TENFYYLEGERYALLCGNR | 310 |
SCN8A | -------------LE---------NGTKGF>-<--DWEEYINN-KTNFYTVPGMLEPLLCGNS | 327 |
SCN9A | -------------ES---------IMNTLE>-<--SEEDF----RKYFYYLEGSKDALLCGFS | 318 |
SCN10A | N---------------------------Y->-<----S-SHRK-PDIYINKRGTSDPLLCGNG | 313 |
SCN11A | ------------------------------>-<---PE---AY-DHCFEKKENSPEFKMCGIW | 316 |
CACNA1A | ------------------------------>-<-------------------E--SPAPCGTE | 275 |
CACNA1B | ------------------------------>-<-------------------V--GDFPCGKE | 271 |
CACNA1C | ------------------------------>-<-------------------D--DPSPCALE | 319 |
CACNA1D | ------------------------------>-<-------------------E--DPAPCAFS | 320 |
CACNA1E | ------------------------------>-<-------------------D--PPHPCGVQ | 271 |
CACNA1F | ------------------------------>-<-------------------E--DPSPCASS | 286 |
CACNA1G | FICSQPRENG-------MRSCRSVPTLRGD>-<--GGGGPPCG-LDYEAYNS---------SS | 309 |
CACNA1H | FICSSRRDNG-------MQKCSHIPGRRE->-<----LRMPCT-LGWEAYTQP--QAEGVGAA | 333 |
CACNA1I | FICSLSGDNG-------IMGCHEIPPLKE->-<----QGRECCLSKDDVYDFG--AGRQDLNA | 312 |
CACNA1S | ------------------------------>-<-------------------E--EPSPCART | 248 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V300I | c.898G>A | Inherited Arrhythmia | BrS | rs199473088 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 | ||
Inherited Arrhythmia | BrS | Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024. 27153395 |