No paralogue variants have been mapped to residue 1002 for SCN5A.
| SCN5A | -----GLLRQ-RPQKPAALA-A----QGQL>P<SCIATPYSPPP-PETEKVPPTRKETRFEEG | 1031 |
| SCN1A | -----QSFIR-KQKILDEIK-PLDDLNNKK>D<SCMSNHT--------AEIGKDLDYLKDVNG | 1081 |
| SCN2A | -----KAFVR-KQKALDEIK-PLEDLNNKK>D<SCISNHT-------TIEIGKDLNYLKDGNG | 1073 |
| SCN3A | -----KAFFR-KPKVI-EIH-E----GNKI>D<SCMSNNT-------GIEISKELNYLRDGNG | 1069 |
| SCN4A | -----GKILS-PKDIMLSLG-EADGAGEAG>E<AGETAPE-------DEKKEPPEEDLKKDNH | 892 |
| SCN7A | -----NVP-------KDTMD-HVNEVYVKE>D<--ISDHTL-------SELSNTQDFLKDKEK | 810 |
| SCN8A | -----AHFKQ-R--EADEVK-PLDELYEKK>A<NCIANHT-------GADIHRNGDFQKNGNG | 1065 |
| SCN9A | -----KAFSK-KPKISREIR-QAEDLNTKK>E<NYISNHT-------LAEMSKGHNFLKEKD- | 1046 |
| SCN10A | -----RSCPFPQPKAEPELVVKLPLSSSKA>E<NHIAANT--------------------ARG | 969 |
| SCN11A | -----KWCRK-Q-NLPQQ--------KEVA>G<GCAAQ---------SKDIIPLVMEMKRGSE | 892 |
| CACNA1A | KQNLLASREA-L-------Y-NEMDPDERW>K<AAYTR-HLRPDMKTHLDRPLVVDPQENRN- | 833 |
| CACNA1B | LQNLRASCEA-L-------Y-SEMDPEERL>R<FATTR-HLRPDMKTHLDRPLVVELGRDGA- | 827 |
| CACNA1C | ------------------------------>-<------------------------------ | |
| CACNA1D | ------------------------------>-<------------------------------ | |
| CACNA1E | KHMQMSSQEA-L-------N-REEAPTMNP>L<NPLNP-LSSL-------NPLNAHPSLYRR- | 829 |
| CACNA1F | ------------------------------>-<------------------------------ | |
| CACNA1G | LVSLGEHPEL-R-------K-SLLPPLIIH>T<AATPM-SLPKSTSTGLGEALGPASRRTS-S | 1071 |
| CACNA1H | AVTPNGHLEG-R-------G-SLSPPLIMC>T<AATPM-PTPKS-SPFLDAAPSLPDSRRGSS | 1108 |
| CACNA1I | PMTPNGHLDP-S-------L-PLGGHLGPA>G<AAGPA-P--RL-SLQPDPMLVALGSRKSSV | 954 |
| CACNA1S | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P1002S | c.3004C>T | Putative Benign | SIFT: Polyphen: |