No paralogue variants have been mapped to residue 2003 for SCN5A.
SCN5A | ------------------------------>D<FPPSPDRDRESIV | 2016 |
SCN1A | ------------------------------>-<---KG-------K | 2009 |
SCN2A | ------------------------------>-<---KGKDIRESKK | 2005 |
SCN3A | ------------------------------>-<---KGKEVRENQK | 2000 |
SCN4A | ------------------------------>-<---VRPGVKESLV | 1836 |
SCN7A | ------------------------------>-<--------IQSQI | 1682 |
SCN8A | ------------------------------>-<---RQKEVRESKC | 1980 |
SCN9A | ------------------------------>-<---KGKDSKESKK | 1977 |
SCN10A | ------------------------------>-<---TSMELIAPGP | 1956 |
SCN11A | ------------------------------>-<------------D | 1791 |
CACNA1A | ------------------------------>R<SPSEGREHMAHRQ | 2261 |
CACNA1B | GYHCTLG-LS--------------SGGR-->A<RHSYHHPDQDHWC | 2340 |
CACNA1C | GEEDA----------GCV-----RARGRPS>E<EELQDSRVYVSSL | 2138 |
CACNA1D | PGYSD----------E-E-----PDPGR-D>E<EDLADEMICITTL | 2181 |
CACNA1E | GHYRRRR-RG-----GPG-----PGMMCGA>V<NNLLSDTEEDDKC | 2313 |
CACNA1F | -LYSD----------E-E-----SILSRFD>E<EDLGDEMACVHAL | 1977 |
CACNA1G | ------------------------------>-<------------P | 2377 |
CACNA1H | GDPPEKRRGLYLTVPQ-CPLEKPGSPSA-->T<PA-PG-GGADDPV | 2353 |
CACNA1I | PP--------------------PQPLPG-->E<LE-PGDAASKRKR | 2223 |
CACNA1S | -----------------G-----SSLGSLD>Q<HQGSQETLIPPRL | 1873 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D2003N | c.6007G>A | Other Cardiac Phenotype | rs376697724 | SIFT: tolerated Polyphen: possibly damaging | |
Reports | Other Cardiac Phenotype | Targeted next generation sequencing application in cardiac channelopathies: Analysis of a cohort of autopsy-negative sudden unexplained deaths. Forensic Sci Int. 2015 254:5-11. doi: 10.1016/j.forsciint.2015.06.023. 26164358 |