No paralogue variants have been mapped to residue 1007 for SCN5A.
| SCN5A | GLLRQ-RPQKPAALA-A----QGQLPSCIA>T<PYSPPP-PETEKVPPTRKETRFEEG--EQP | 1034 |
| SCN1A | QSFIR-KQKILDEIK-PLDDLNNKKDSCMS>N<HT--------AEIGKDLDYLKDVNG--TTS | 1084 |
| SCN2A | KAFVR-KQKALDEIK-PLEDLNNKKDSCIS>N<HT-------TIEIGKDLNYLKDGNG--TTS | 1076 |
| SCN3A | KAFFR-KPKVI-EIH-E----GNKIDSCMS>N<NT-------GIEISKELNYLRDGNG--TTS | 1072 |
| SCN4A | GKILS-PKDIMLSLG-EADGAGEAGEAGET>A<PE-------DEKKEPPEEDLKKDNH--ILN | 895 |
| SCN7A | NVP-------KDTMD-HVNEVYVKED--IS>D<HTL-------SELSNTQDFLKDKEK--S-S | 812 |
| SCN8A | AHFKQ-R--EADEVK-PLDELYEKKANCIA>N<HT-------GADIHRNGDFQKNGNG--TTS | 1068 |
| SCN9A | KAFSK-KPKISREIR-QAEDLNTKKENYIS>N<HT-------LAEMSKGHNFLKEKD---KIS | 1049 |
| SCN10A | RSCPFPQPKAEPELVVKLPLSSSKAENHIA>A<NT--------------------ARG--SSG | 972 |
| SCN11A | KWCRK-Q-NLPQQ--------KEVAGGCAA>Q<---------SKDIIPLVMEMKRGSE--TQE | 895 |
| CACNA1A | ASREA-L-------Y-NEMDPDERWKAAYT>R<-HLRPDMKTHLDRPLVVDPQENRN-NNTNK | 838 |
| CACNA1B | ASCEA-L-------Y-SEMDPEERLRFATT>R<-HLRPDMKTHLDRPLVVELGRDGA-RGPVG | 832 |
| CACNA1C | ------------------------------>-<------------------------------ | |
| CACNA1D | ------------------------------>-<------------------------------ | |
| CACNA1E | SSQEA-L-------N-REEAPTMNPLNPLN>P<-LSSL-------NPLNAHPSLYRR-PRAIE | 834 |
| CACNA1F | ------------------------------>-<------------------------------ | |
| CACNA1G | EHPEL-R-------K-SLLPPLIIHTAATP>M<-SLPKSTSTGLGEALGPASRRTS-SSGSAE | 1076 |
| CACNA1H | GHLEG-R-------G-SLSPPLIMCTAATP>M<-PTPKS-SPFLDAAPSLPDSRRGSSSS-GD | 1112 |
| CACNA1I | GHLDP-S-------L-PLGGHLGPAGAAGP>A<-P--RL-SLQPDPMLVALGSRKSSVMS-LG | 958 |
| CACNA1S | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T1007I | c.3020C>T | Putative Benign | SIFT: Polyphen: |