No paralogue variants have been mapped to residue 982 for SCN5A.
| SCN5A | -----------------------RTTWDFC>C<-----------GLLRQ-RPQKPAALA-A-- | 997 |
| SCN1A | -----------------------RKIYEFI>Q<-----------QSFIR-KQKILDEIK-PLD | 1052 |
| SCN2A | -----------------------RKIREFI>Q<-----------KAFVR-KQKALDEIK-PLE | 1043 |
| SCN3A | -----------------------NKMRECF>Q<-----------KAFFR-KPKVI-EIH-E-- | 1041 |
| SCN4A | -----------------------AFLLGLL>H<-----------GKILS-PKDIMLSLG-EAD | 862 |
| SCN7A | -----------------------LKILCKT>Q<-----------NVP-------KDTMD-HVN | 782 |
| SCN8A | -----------------------LKVHAFM>Q<-----------AHFKQ-R--EADEVK-PLD | 1035 |
| SCN9A | -----------------------QTLREFI>L<-----------KAFSK-KPKISREIR-QAE | 1017 |
| SCN10A | --------------------RTKQALCSFF>S<-----------RSCPFPQPKAEPELVVKLP | 952 |
| SCN11A | -----------------------HTLEHFC>H<-----------KWCRK-Q-NLPQQ------ | 866 |
| CACNA1A | ----------IAVKEQQKNQKPAKSVWEQR>T<SEM--RKQNLLASREA-L-------Y-NEM | 798 |
| CACNA1B | ----------IAA--RQQNSAKARSVWEQR>A<SQL--RLQNLRASCEA-L-------Y-SEM | 792 |
| CACNA1C | ------------------P----------->-<------------------------------ | 784 |
| CACNA1D | ------------------L----------->-<------------------------------ | 803 |
| CACNA1E | RRHHMSMWEPRSSHLRERRRRHHMSVWEQR>T<SQL--RKHMQMSSQEA-L-------N-REE | 801 |
| CACNA1F | ------------------L----------->-<------------------------------ | 789 |
| CACNA1G | ESE---------------PDFFSPSLDGDG>D<RKKCLALVSLGEHPEL-R-------K-SLL | 1036 |
| CACNA1H | ------------------------RELQTT>E<LKMCSLAVTPNGHLEG-R-------G-SLS | 1073 |
| CACNA1I | ------------------------GLDSSG>D<PKLCPIPMTPNGHLDP-S-------L-PLG | 921 |
| CACNA1S | ------------------E----------->-<------------------------------ | 695 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.C982R | c.2944T>C | Other Cardiac Phenotype | rs199473182 | SIFT: tolerated Polyphen: benign | |
| Reports | Other Cardiac Phenotype | High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia. Clin Genet. 2006 69(6):504-11. 16712702 | |||
| Other Cardiac Phenotype | Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113 | ||||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 | ||||