No paralogue variants have been mapped to residue 1063 for SCN5A.
SCN5A | ------------------------------>E<ENSLGTEEE-------------SSKQQESQ | 1080 |
SCN1A | ------------------------------>D<FSSESDLEE-------------SK---E-- | 1143 |
SCN2A | ------------------------------>E<FSSESDMEE-------------SK---E-- | 1133 |
SCN3A | ------------------------------>E<FSSESELEE-------------SK---E-- | 1131 |
SCN4A | ------------------------------>E<TDTFSEPED-------------SKKPPQ-- | 955 |
SCN7A | ------------------------------>E<IQSKSGDGG-------------SK---E-- | 864 |
SCN8A | ------------------------------>D<VSSESDPEG-------------SK---D-- | 1124 |
SCN9A | ------------------------------>E<LSSDSDSEY-------------SK---V-- | 1106 |
SCN10A | P---SLG-----------------E----->T<WKDESVPQV-------------PA---E-- | 1076 |
SCN11A | ------------------------------>N<AQRITQPEP-------------EQQAYEL- | 949 |
CACNA1A | ------------------------------>-<--------------RHGAPATYEGDARRED | 1022 |
CACNA1B | ------------------------------>-<--------------RARHKAQPAHEAVEKE | 996 |
CACNA1C | DDLQPNENEDK----SPYPNP---ET---->-<TGEEDEEEP--------------------- | 851 |
CACNA1D | DDYRE-EDEDK----DPYPPC---DVPVGE>E<EEEEEEDEP--------------------- | 857 |
CACNA1E | D-------------------EADTPL---->-<VLPHPELEVGKHVVLTEQEPEGSSEQALLG | 1036 |
CACNA1F | ----E-EEE-G----ARREGA---DMEEEE>E<EEEEEEEEE--------------------- | 822 |
CACNA1G | S---ASGRLARALRPDD---P---PL---->-<DGDDADDEG--------------------- | 1228 |
CACNA1H | V---VALPSDFFLRIDS---H---RE---->-<DAAELDDDS--------------------- | 1246 |
CACNA1I | M---PSIAKDVFTKMGD-------RG---->-<DRGEDEEEI--------------------- | 1122 |
CACNA1S | DEFESNVNEVK----DPYPSA---DF---->-<PGDDEEDEP--------------------- | 750 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1063G | c.3188A>G | Putative Benign | SIFT: Polyphen: |