No paralogue variants have been mapped to residue 2011 for SCN5A.
SCN5A | ----------------------DFPPSPDR>D<RESIV | 2016 |
SCN1A | --------------------------KG-->-<----K | 2009 |
SCN2A | --------------------------KGKD>I<RESKK | 2005 |
SCN3A | --------------------------KGKE>V<RENQK | 2000 |
SCN4A | --------------------------VRPG>V<KESLV | 1836 |
SCN7A | ------------------------------>-<IQSQI | 1682 |
SCN8A | --------------------------RQKE>V<RESKC | 1980 |
SCN9A | --------------------------KGKD>S<KESKK | 1977 |
SCN10A | --------------------------TSME>L<IAPGP | 1956 |
SCN11A | ------------------------------>-<----D | 1791 |
CACNA1A | ----------------------RSPSEGRE>H<MAHRQ | 2261 |
CACNA1B | LS--------------SGGR--ARHSYHHP>D<QDHWC | 2340 |
CACNA1C | -------GCV-----RARGRPSEEELQDSR>V<YVSSL | 2138 |
CACNA1D | -------E-E-----PDPGR-DEEDLADEM>I<CITTL | 2181 |
CACNA1E | RG-----GPG-----PGMMCGAVNNLLSDT>E<EDDKC | 2313 |
CACNA1F | -------E-E-----SILSRFDEEDLGDEM>A<CVHAL | 1977 |
CACNA1G | ------------------------------>-<----P | 2377 |
CACNA1H | GLYLTVPQ-CPLEKPGSPSA--TPA-PG-G>G<ADDPV | 2353 |
CACNA1I | --------------PQPLPG--ELE-PGDA>A<SKRKR | 2223 |
CACNA1S | ---------G-----SSLGSLDQHQGSQET>L<IPPRL | 1873 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Asp2011Glu | c.6033C>A | Unknown | SIFT: Polyphen: |