No paralogue variants have been mapped to residue 306 for SCN5A.
SCN5A | -------GS---------VEADGLVWESLD>L<YLSD-PENYLLKNGTSDVLLCGNSSDAG-T | 334 |
SCN1A | -------IN---------ETVFEF---DWK>S<YIQD-SRYHYFLEGFLDALLCGNSSDAG-Q | 344 |
SCN2A | -------FN---------RTVSIF---NWD>E<YIED-KSHFYFLEGQNDALLCGNSSDAG-Q | 346 |
SCN3A | -------VN---------VTMSTF---NWK>D<YIGD-DSHFYVLDGQKDPLLCGNGSDAG-Q | 345 |
SCN4A | YGNDSWYANDTWNSHASWATNDTF---DWD>A<YISD-EGNFYFLEGSNDALLCGNSSDAG-H | 368 |
SCN7A | --------N---------RTG-------NP>Y<YIRE-TENFYYLEGERYALLCGNRTDAG-Q | 315 |
SCN8A | -------LE---------NGTKGF---DWE>E<YINN-KTNFYTVPGMLEPLLCGNSSDAG-Q | 332 |
SCN9A | -------ES---------IMNTLE---SEE>D<F----RKYFYYLEGSKDALLCGFSTDSG-Q | 323 |
SCN10A | ----------------------Y------S>-<SHRK-PDIYINKRGTSDPLLCGNGSDSG-H | 318 |
SCN11A | ----------------------------PE>-<--AY-DHCFEKKENSPEFKMCGIWMGNS-A | 321 |
CACNA1A | ------------------------------>-<-------------E--SPAPCGTEEPA-RT | 280 |
CACNA1B | ------------------------------>-<-------------V--GDFPCGKEAPA-RL | 276 |
CACNA1C | ------------------------------>-<-------------D--DPSPCALETGHGRQ | 325 |
CACNA1D | ------------------------------>-<-------------E--DPAPCAFSGNGR-Q | 325 |
CACNA1E | ------------------------------>-<-------------D--PPHPCGVQG----- | 272 |
CACNA1F | ------------------------------>-<-------------E--DPSPCASSGSGR-A | 291 |
CACNA1G | RENG-------MRSCRSVPTLRGD---GGG>G<PPCG-LDYEAYNS---------SSNTTC-V | 314 |
CACNA1H | RDNG-------MQKCSHIPGRRE------L>R<MPCT-LGWEAYTQP--QAEGVGAARNAC-I | 338 |
CACNA1I | GDNG-------IMGCHEIPPLKE------Q>G<RECCLSKDDVYDFG--AGRQDLNASGLC-V | 317 |
CACNA1S | ------------------------------>-<-------------E--EPSPCARTGSGR-R | 253 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L306V | c.916C>G | Putative Benign | SIFT: Polyphen: | ||
p.L306F | c.916C>T | Putative Benign | SIFT: Polyphen: |