| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CACNA1G | A1089S | Myoclonic epilepsy, juvenile | Low | 1 | 17397049 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.
| SCN5A | ----T-----------------------PG>D<--PE-------------------------- | 1043 |
| SCN1A | ----T-----------------------GS>S<--VEKY-IIDESDYM--------SFINN-- | 1108 |
| SCN2A | ----------------------------GS>S<--VEKY-VVDESDYM--------SFINN-- | 1098 |
| SCN3A | ----T-----------------------GS>S<--VEKY-VIDENDYM--------SFINN-- | 1096 |
| SCN4A | -----------------------------L>A<--DGPP-SSLELDHL--------NFINN-- | 917 |
| SCN7A | ------------------------------>G<--TEKN--ATENESQ--------SLIPS-- | 829 |
| SCN8A | ----------------------------GS>S<--VEKY-IIDE-DHM--------SFINN-- | 1089 |
| SCN9A | ----------------------------GS>S<--VDKH-LMEDSDGQ--------SFIHN-- | 1071 |
| SCN10A | ----A-----------------------PR>G<--P-------RDEHS--------DFIAN-- | 990 |
| SCN11A | ----I-----------------------LT>S<--VPKT-LGVRHDW---------------- | 913 |
| CACNA1A | KQARYHDRARDPSGSAGLDARRPWA-GSQE>A<ELSREG-P--YGRESDHH-AREGSLEQPGF | 916 |
| CACNA1B | RHHRHRDKDKTPAAG---D----QDRAEAP>K<AESGEP-G---AREERPRPHRSHSKEAAGP | 900 |
| CACNA1C | -K----P------A-------V-------->-<------------------------------ | 796 |
| CACNA1D | -K----P------E-------V-------->-<------------------------------ | 813 |
| CACNA1E | GGSLKGDGGDRSSAL---DNQRTP-LSLGQ>-<---REPPW---LARPCHG-NCDPTQQEAGG | 901 |
| CACNA1F | ------P------G-------V-------->-<------------------------------ | 793 |
| CACNA1G | ----AHEMKSPPSARSSPH----S--P-WS>A<--ASSW-TSRRSSRN--------SLGRA-- | 1116 |
| CACNA1H | ----LGDQKPPASLRSSPC----A--P-WG>P<--SGAW-SSRRSSWS--------SLGRA-- | 1151 |
| CACNA1I | ----SYDQRSLSSSRSSYY----G--P-WG>R<--SAAW-ASRRSSWN--------SLKHK-- | 997 |
| CACNA1S | -A----K------K-------L-------->-<------------------------------ | 705 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D1041N | c.3121G>A | Inherited Arrhythmia | rs45491996 | SIFT: tolerated Polyphen: benign | |
| Reports | Inherited Arrhythmia | BrS | Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome. Hum Mol Genet. 2015 24(10):2757-63. doi: 10.1093/hmg/ddv036. 25650408 | ||
| p.D1041G | c.3122A>G | Putative Benign | SIFT: Polyphen: | ||