No paralogue variants have been mapped to residue 1000 for SCN5A.
| SCN5A | -------GLLRQ-RPQKPAALA-A----QG>Q<LPSCIATPYSPPP-PETEKVPPTRKETRFE | 1029 |
| SCN1A | -------QSFIR-KQKILDEIK-PLDDLNN>K<KDSCMSNHT--------AEIGKDLDYLKDV | 1079 |
| SCN2A | -------KAFVR-KQKALDEIK-PLEDLNN>K<KDSCISNHT-------TIEIGKDLNYLKDG | 1071 |
| SCN3A | -------KAFFR-KPKVI-EIH-E----GN>K<IDSCMSNNT-------GIEISKELNYLRDG | 1067 |
| SCN4A | -------GKILS-PKDIMLSLG-EADGAGE>A<GEAGETAPE-------DEKKEPPEEDLKKD | 890 |
| SCN7A | -------NVP-------KDTMD-HVNEVYV>K<ED--ISDHTL-------SELSNTQDFLKDK | 808 |
| SCN8A | -------AHFKQ-R--EADEVK-PLDELYE>K<KANCIANHT-------GADIHRNGDFQKNG | 1063 |
| SCN9A | -------KAFSK-KPKISREIR-QAEDLNT>K<KENYISNHT-------LAEMSKGHNFLKEK | 1045 |
| SCN10A | -------RSCPFPQPKAEPELVVKLPLSSS>K<AENHIAANT--------------------A | 967 |
| SCN11A | -------KWCRK-Q-NLPQQ--------KE>V<AGGCAAQ---------SKDIIPLVMEMKRG | 890 |
| CACNA1A | -RKQNLLASREA-L-------Y-NEMDPDE>R<WKAAYTR-HLRPDMKTHLDRPLVVDPQENR | 832 |
| CACNA1B | -RLQNLRASCEA-L-------Y-SEMDPEE>R<LRFATTR-HLRPDMKTHLDRPLVVELGRDG | 826 |
| CACNA1C | ------------------------------>-<------------------------------ | |
| CACNA1D | ------------------------------>-<------------------------------ | |
| CACNA1E | -RKHMQMSSQEA-L-------N-REEAPTM>N<PLNPLNP-LSSL-------NPLNAHPSLYR | 828 |
| CACNA1F | ------------------------------>-<------------------------------ | |
| CACNA1G | LALVSLGEHPEL-R-------K-SLLPPLI>I<HTAATPM-SLPKSTSTGLGEALGPASRRTS | 1070 |
| CACNA1H | SLAVTPNGHLEG-R-------G-SLSPPLI>M<CTAATPM-PTPKS-SPFLDAAPSLPDSRRG | 1106 |
| CACNA1I | PIPMTPNGHLDP-S-------L-PLGGHLG>P<AGAAGPA-P--RL-SLQPDPMLVALGSRKS | 952 |
| CACNA1S | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Q1000L | c.2999A>T | Putative Benign | SIFT: Polyphen: |