No paralogue variants have been mapped to residue 986 for SCN5A.
| SCN5A | --------RTTWDFCC-----------GLL>R<Q-RPQKPAALA-A----QGQLPSCIATPYS | 1010 |
| SCN1A | --------RKIYEFIQ-----------QSF>I<R-KQKILDEIK-PLDDLNNKKDSCMSNHT- | 1066 |
| SCN2A | --------RKIREFIQ-----------KAF>V<R-KQKALDEIK-PLEDLNNKKDSCISNHT- | 1057 |
| SCN3A | --------NKMRECFQ-----------KAF>F<R-KPKVI-EIH-E----GNKIDSCMSNNT- | 1053 |
| SCN4A | --------AFLLGLLH-----------GKI>L<S-PKDIMLSLG-EADGAGEAGEAGETAPE- | 876 |
| SCN7A | --------LKILCKTQ-----------NVP>-<------KDTMD-HVNEVYVKED--ISDHTL | 795 |
| SCN8A | --------LKVHAFMQ-----------AHF>K<Q-R--EADEVK-PLDELYEKKANCIANHT- | 1049 |
| SCN9A | --------QTLREFIL-----------KAF>S<K-KPKISREIR-QAEDLNTKKENYISNHT- | 1031 |
| SCN10A | -----RTKQALCSFFS-----------RSC>P<FPQPKAEPELVVKLPLSSSKAENHIAANT- | 966 |
| SCN11A | --------HTLEHFCH-----------KWC>R<K-Q-NLPQQ--------KEVAGGCAAQ--- | 876 |
| CACNA1A | QQKNQKPAKSVWEQRTSEM--RKQNLLASR>E<A-L-------Y-NEMDPDERWKAAYTR-HL | 812 |
| CACNA1B | RQQNSAKARSVWEQRASQL--RLQNLRASC>E<A-L-------Y-SEMDPEERLRFATTR-HL | 806 |
| CACNA1C | ---P-------------------------->-<------------------------------ | 784 |
| CACNA1D | ---L-------------------------->-<------------------------------ | 803 |
| CACNA1E | RERRRRHHMSVWEQRTSQL--RKHMQMSSQ>E<A-L-------N-REEAPTMNPLNPLNP-LS | 815 |
| CACNA1F | ---L-------------------------->-<------------------------------ | 789 |
| CACNA1G | ---PDFFSPSLDGDGDRKKCLALVSLGEHP>E<L-R-------K-SLLPPLIIHTAATPM-SL | 1050 |
| CACNA1H | ---------RELQTTELKMCSLAVTPNGHL>E<G-R-------G-SLSPPLIMCTAATPM-PT | 1087 |
| CACNA1I | ---------GLDSSGDPKLCPIPMTPNGHL>D<P-S-------L-PLGGHLGPAGAAGPA-P- | 934 |
| CACNA1S | ---E-------------------------->-<------------------------------ | 695 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R986Q | c.2957G>A | Inherited Arrhythmia | rs41313667 | 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 | ||||
| Inherited Arrhythmia | AF | Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation. Circ Arrhythm Electrophysiol. 2015 26129877 | |||
| p.R986W | c.2956C>T | Putative Benign | SIFT: tolerated Polyphen: benign | ||