No paralogue variants have been mapped to residue 2010 for SCN5A.
SCN5A | -----------------------DFPPSPD>R<DRESIV | 2016 |
SCN1A | ---------------------------KG->-<-----K | 2009 |
SCN2A | ---------------------------KGK>D<IRESKK | 2005 |
SCN3A | ---------------------------KGK>E<VRENQK | 2000 |
SCN4A | ---------------------------VRP>G<VKESLV | 1836 |
SCN7A | ------------------------------>-<-IQSQI | 1682 |
SCN8A | ---------------------------RQK>E<VRESKC | 1980 |
SCN9A | ---------------------------KGK>D<SKESKK | 1977 |
SCN10A | ---------------------------TSM>E<LIAPGP | 1956 |
SCN11A | ------------------------------>-<-----D | 1791 |
CACNA1A | -----------------------RSPSEGR>E<HMAHRQ | 2261 |
CACNA1B | -LS--------------SGGR--ARHSYHH>P<DQDHWC | 2340 |
CACNA1C | --------GCV-----RARGRPSEEELQDS>R<VYVSSL | 2138 |
CACNA1D | --------E-E-----PDPGR-DEEDLADE>M<ICITTL | 2181 |
CACNA1E | -RG-----GPG-----PGMMCGAVNNLLSD>T<EEDDKC | 2313 |
CACNA1F | --------E-E-----SILSRFDEEDLGDE>M<ACVHAL | 1977 |
CACNA1G | ------------------------------>-<-----P | 2377 |
CACNA1H | RGLYLTVPQ-CPLEKPGSPSA--TPA-PG->G<GADDPV | 2353 |
CACNA1I | ---------------PQPLPG--ELE-PGD>A<ASKRKR | 2223 |
CACNA1S | ----------G-----SSLGSLDQHQGSQE>T<LIPPRL | 1873 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2010G | c.6028A>G | Putative Benign | SIFT: Polyphen: |