No paralogue variants have been mapped to residue 1040 for SCN5A.
| SCN5A | -----T-----------------------P>G<D--PE------------------------- | 1043 |
| SCN1A | -----T-----------------------G>S<S--VEKY-IIDESDYM--------SFINN- | 1108 |
| SCN2A | -----------------------------G>S<S--VEKY-VVDESDYM--------SFINN- | 1098 |
| SCN3A | -----T-----------------------G>S<S--VEKY-VIDENDYM--------SFINN- | 1096 |
| SCN4A | ------------------------------>L<A--DGPP-SSLELDHL--------NFINN- | 917 |
| SCN7A | ------------------------------>-<G--TEKN--ATENESQ--------SLIPS- | 829 |
| SCN8A | -----------------------------G>S<S--VEKY-IIDE-DHM--------SFINN- | 1089 |
| SCN9A | -----------------------------G>S<S--VDKH-LMEDSDGQ--------SFIHN- | 1071 |
| SCN10A | -----A-----------------------P>R<G--P-------RDEHS--------DFIAN- | 990 |
| SCN11A | -----I-----------------------L>T<S--VPKT-LGVRHDW--------------- | 913 |
| CACNA1A | RKQARYHDRARDPSGSAGLDARRPWA-GSQ>E<AELSREG-P--YGRESDHH-AREGSLEQPG | 915 |
| CACNA1B | RRHHRHRDKDKTPAAG---D----QDRAEA>P<KAESGEP-G---AREERPRPHRSHSKEAAG | 899 |
| CACNA1C | --K----P------A-------V------->-<------------------------------ | 796 |
| CACNA1D | --K----P------E-------V------->-<------------------------------ | 813 |
| CACNA1E | RGGSLKGDGGDRSSAL---DNQRTP-LSLG>Q<----REPPW---LARPCHG-NCDPTQQEAG | 900 |
| CACNA1F | -------P------G-------V------->-<------------------------------ | 793 |
| CACNA1G | -----AHEMKSPPSARSSPH----S--P-W>S<A--ASSW-TSRRSSRN--------SLGRA- | 1116 |
| CACNA1H | -----LGDQKPPASLRSSPC----A--P-W>G<P--SGAW-SSRRSSWS--------SLGRA- | 1151 |
| CACNA1I | -----SYDQRSLSSSRSSYY----G--P-W>G<R--SAAW-ASRRSSWN--------SLKHK- | 997 |
| CACNA1S | --A----K------K-------L------->-<------------------------------ | 705 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G1040R | c.3118G>A | Putative Benign | rs199473186 | SIFT: tolerated Polyphen: benign | |
| Reports | Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Putative Benign | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 | ||||
| p.G1040R | c.3118G>C | Putative Benign | SIFT: Polyphen: | ||