No paralogue variants have been mapped to residue 295 for SCN5A.
SCN5A | -G-TN-------------GS---------V>E<ADGLVWESLDLYLSD-PENYLLKNGTSDVL | 324 |
SCN1A | -G-TL-------------IN---------E>T<VFEF---DWKSYIQD-SRYHYFLEGFLDAL | 334 |
SCN2A | -G-TT-------------FN---------R>T<VSIF---NWDEYIED-KSHFYFLEGQNDAL | 336 |
SCN3A | -G-TF-------------VN---------V>T<MSTF---NWKDYIGD-DSHFYVLDGQKDPL | 335 |
SCN4A | -D-TWYGNEMWYGNDSWYANDTWNSHASWA>T<NDTF---DWDAYISD-EGNFYFLEGSNDAL | 358 |
SCN7A | -E-TLH-------------N---------R>T<G-------NPYYIRE-TENFYYLEGERYAL | 305 |
SCN8A | -E-SY-------------LE---------N>G<TKGF---DWEEYINN-KTNFYTVPGMLEPL | 322 |
SCN9A | -E-TL-------------ES---------I>M<NTLE---SEEDF----RKYFYYLEGSKDAL | 313 |
SCN10A | -E-TTN------------------------>-<--Y------S-SHRK-PDIYINKRGTSDPL | 308 |
SCN11A | -I-SN------------------------->-<--------PE---AY-DHCFEKKENSPEFK | 311 |
CACNA1A | -G---------------------------->-<------------------------E--SPA | 270 |
CACNA1B | -P---------------------------->-<------------------------V--GDF | 266 |
CACNA1C | -E---------------------------->-<------------------------D--DPS | 314 |
CACNA1D | -E---------------------------->-<------------------------E--DPA | 315 |
CACNA1E | -F---------------------------->-<------------------------D--PPH | 266 |
CACNA1F | -E---------------------------->-<------------------------E--DPS | 281 |
CACNA1G | -DESPFICSQPRENG-------MRSCRSVP>T<LRGD---GGGGPPCG-LDYEAYNS------ | 307 |
CACNA1H | -EENPFICSSRRDNG-------MQKCSHIP>G<RRE------LRMPCT-LGWEAYTQP--QAE | 328 |
CACNA1I | -DEMPFICSLSGDNG-------IMGCHEIP>P<LKE------QGRECCLSKDDVYDFG--AGR | 307 |
CACNA1S | EN---------------------------->-<------------------------E--EPS | 243 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E295K | c.883G>A | Putative Benign | SIFT: Polyphen: |