No paralogue variants have been mapped to residue 1011 for SCN5A.
SCN5A | Q-RPQKPAALA-A----QGQLPSCIATPYS>P<PP-PETEKVPPTRKETRFEEG--EQPGQG- | 1037 |
SCN1A | R-KQKILDEIK-PLDDLNNKKDSCMSNHT->-<------AEIGKDLDYLKDVNG--TTSGIG- | 1087 |
SCN2A | R-KQKALDEIK-PLEDLNNKKDSCISNHT->-<-----TIEIGKDLNYLKDGNG--TTSGI-- | 1078 |
SCN3A | R-KPKVI-EIH-E----GNKIDSCMSNNT->-<-----GIEISKELNYLRDGNG--TTSGVG- | 1075 |
SCN4A | S-PKDIMLSLG-EADGAGEAGEAGETAPE->-<-----DEKKEPPEEDLKKDNH--ILNHMG- | 898 |
SCN7A | ------KDTMD-HVNEVYVKED--ISDHTL>-<------SELSNTQDFLKDKEK--S-S---- | 812 |
SCN8A | Q-R--EADEVK-PLDELYEKKANCIANHT->-<-----GADIHRNGDFQKNGNG--TTSGI-- | 1070 |
SCN9A | K-KPKISREIR-QAEDLNTKKENYISNHT->-<-----LAEMSKGHNFLKEKD---KISGF-- | 1051 |
SCN10A | FPQPKAEPELVVKLPLSSSKAENHIAANT->-<------------------ARG--SSGGLQ- | 975 |
SCN11A | K-Q-NLPQQ--------KEVAGGCAAQ--->-<-----SKDIIPLVMEMKRGSE--TQEELG- | 898 |
CACNA1A | A-L-------Y-NEMDPDERWKAAYTR-HL>R<PDMKTHLDRPLVVDPQENRN-NNTNKSRAA | 842 |
CACNA1B | A-L-------Y-SEMDPEERLRFATTR-HL>R<PDMKTHLDRPLVVELGRDGA-RGPVGGKAR | 836 |
CACNA1C | ------------------------------>-<------------------------------ | |
CACNA1D | ------------------------------>-<------------------------------ | |
CACNA1E | A-L-------N-REEAPTMNPLNPLNP-LS>S<L-------NPLNAHPSLYRR-PRAIEGLAL | 838 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | L-R-------K-SLLPPLIIHTAATPM-SL>P<KSTSTGLGEALGPASRRTS-SSGSAEPGA- | 1079 |
CACNA1H | G-R-------G-SLSPPLIMCTAATPM-PT>P<KS-SPFLDAAPSLPDSRRGSSSS-GDP-P- | 1114 |
CACNA1I | P-S-------L-PLGGHLGPAGAAGPA-P->-<RL-SLQPDPMLVALGSRKSSVMS-LGR-M- | 960 |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1011L | c.3032C>T | Other Cardiac Phenotype | rs369249772 | SIFT: tolerated Polyphen: benign | |
Reports | Other Cardiac Phenotype | Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775 | |||
p.P1011S | c.3031C>T | Putative Benign | SIFT: Polyphen: |