No paralogue variants have been mapped to residue 2009 for SCN5A.
SCN5A | ------------------------DFPPSP>D<RDRESIV | 2016 |
SCN1A | ----------------------------KG>-<------K | 2009 |
SCN2A | ----------------------------KG>K<DIRESKK | 2005 |
SCN3A | ----------------------------KG>K<EVRENQK | 2000 |
SCN4A | ----------------------------VR>P<GVKESLV | 1836 |
SCN7A | ------------------------------>-<--IQSQI | 1682 |
SCN8A | ----------------------------RQ>K<EVRESKC | 1980 |
SCN9A | ----------------------------KG>K<DSKESKK | 1977 |
SCN10A | ----------------------------TS>M<ELIAPGP | 1956 |
SCN11A | ------------------------------>-<------D | 1791 |
CACNA1A | ------------------------RSPSEG>R<EHMAHRQ | 2261 |
CACNA1B | G-LS--------------SGGR--ARHSYH>H<PDQDHWC | 2340 |
CACNA1C | ---------GCV-----RARGRPSEEELQD>S<RVYVSSL | 2138 |
CACNA1D | ---------E-E-----PDPGR-DEEDLAD>E<MICITTL | 2181 |
CACNA1E | R-RG-----GPG-----PGMMCGAVNNLLS>D<TEEDDKC | 2313 |
CACNA1F | ---------E-E-----SILSRFDEEDLGD>E<MACVHAL | 1977 |
CACNA1G | ------------------------------>-<------P | 2377 |
CACNA1H | RRGLYLTVPQ-CPLEKPGSPSA--TPA-PG>-<GGADDPV | 2353 |
CACNA1I | ----------------PQPLPG--ELE-PG>D<AASKRKR | 2223 |
CACNA1S | -----------G-----SSLGSLDQHQGSQ>E<TLIPPRL | 1873 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2009E | c.6027C>G | Putative Benign | SIFT: Polyphen: |