No paralogue variants have been mapped to residue 1005 for SCN5A.
| SCN5A | --GLLRQ-RPQKPAALA-A----QGQLPSC>I<ATPYSPPP-PETEKVPPTRKETRFEEG--E | 1032 |
| SCN1A | --QSFIR-KQKILDEIK-PLDDLNNKKDSC>M<SNHT--------AEIGKDLDYLKDVNG--T | 1082 |
| SCN2A | --KAFVR-KQKALDEIK-PLEDLNNKKDSC>I<SNHT-------TIEIGKDLNYLKDGNG--T | 1074 |
| SCN3A | --KAFFR-KPKVI-EIH-E----GNKIDSC>M<SNNT-------GIEISKELNYLRDGNG--T | 1070 |
| SCN4A | --GKILS-PKDIMLSLG-EADGAGEAGEAG>E<TAPE-------DEKKEPPEEDLKKDNH--I | 893 |
| SCN7A | --NVP-------KDTMD-HVNEVYVKED-->I<SDHTL-------SELSNTQDFLKDKEK--S | 811 |
| SCN8A | --AHFKQ-R--EADEVK-PLDELYEKKANC>I<ANHT-------GADIHRNGDFQKNGNG--T | 1066 |
| SCN9A | --KAFSK-KPKISREIR-QAEDLNTKKENY>I<SNHT-------LAEMSKGHNFLKEKD---K | 1047 |
| SCN10A | --RSCPFPQPKAEPELVVKLPLSSSKAENH>I<AANT--------------------ARG--S | 970 |
| SCN11A | --KWCRK-Q-NLPQQ--------KEVAGGC>A<AQ---------SKDIIPLVMEMKRGSE--T | 893 |
| CACNA1A | LLASREA-L-------Y-NEMDPDERWKAA>Y<TR-HLRPDMKTHLDRPLVVDPQENRN-NNT | 836 |
| CACNA1B | LRASCEA-L-------Y-SEMDPEERLRFA>T<TR-HLRPDMKTHLDRPLVVELGRDGA-RGP | 830 |
| CACNA1C | ------------------------------>-<------------------------------ | |
| CACNA1D | ------------------------------>-<------------------------------ | |
| CACNA1E | QMSSQEA-L-------N-REEAPTMNPLNP>L<NP-LSSL-------NPLNAHPSLYRR-PRA | 832 |
| CACNA1F | ------------------------------>-<------------------------------ | |
| CACNA1G | LGEHPEL-R-------K-SLLPPLIIHTAA>T<PM-SLPKSTSTGLGEALGPASRRTS-SSGS | 1074 |
| CACNA1H | PNGHLEG-R-------G-SLSPPLIMCTAA>T<PM-PTPKS-SPFLDAAPSLPDSRRGSSSS- | 1110 |
| CACNA1I | PNGHLDP-S-------L-PLGGHLGPAGAA>G<PA-P--RL-SLQPDPMLVALGSRKSSVMS- | 956 |
| CACNA1S | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I1005T | c.3014T>C | Putative Benign | SIFT: Polyphen: |