No paralogue variants have been mapped to residue 1924 for SCN5A.
| SCN5A | EEVS----AMVIQRAF-RRHLLQRS--LKH>A<-SFLFRQ---------QAGSGLSEEDAPER | 1944 |
| SCN1A | EEVS----AVIIQRAY-RRHLLKRT--VKQ>A<-SFTYNK---------NKIKG--GANLLIK | 1956 |
| SCN2A | EEVS----AIIIQRAY-RRYLLKQK--VKK>V<-SSIYKK---------DKGKE--CDGTPIK | 1946 |
| SCN3A | EEVS----AAIIQRNF-RCYLLKQR--LKN>I<-SSNYNK---------EAIKG--RIDLPIK | 1941 |
| SCN4A | EEVC----AIKIQRAY-RRHLLQRS--MKQ>A<-SYMYRH---------SHDGS--GDDAPEK | 1768 |
| SCN7A | EAVS----ATIIQRAY-KNYRLRRN--DKN>T<-SDIHMI---------DGDR----DVHATK | 1664 |
| SCN8A | EEVS----AVVLQRAY-RGHLARRG--FIC>-<-----------------------------K | 1918 |
| SCN9A | EDVS----ATVIQRAY-RRYRLRQN--VKN>I<-SSIYIK---------DGDRD---DDLLNK | 1918 |
| SCN10A | EDIS----ATVIQKAY-RSYVLHRS--MAL>S<-NTPCVP---------RAEEE---AASLPD | 1891 |
| SCN11A | EERG----AAIIQKAF-RKYMMKVT--KGD>Q<-G-D--Q----------------------- | 1759 |
| CACNA1A | LTVGKIYAAMMIMEYY-RQSKAKK--LQAM>R<-E---EQDRTPLMFQRMEPPS------PTQ | 1998 |
| CACNA1B | MTVGKVYAALMIFDFY-KQNKTTRDQMQQA>P<GG---LS----QMGPVSLFHP------LKA | 1896 |
| CACNA1C | VTVGKFYATFLIQEYF-RKFKKRKE--QGL>V<-GK--PS--------QRNALS-L-QAGLRT | 1657 |
| CACNA1D | VTVGKFYATFLIQDYF-RKFKKRKE--QGL>V<-GK-YPA--------KNTTIA-L-QAGLRT | 1666 |
| CACNA1E | LTVGKIYAAMMIMDYY-KQSKVKKQ--RQQ>L<-E---EQ-KNAPMFQRMEPSS------LPQ | 1909 |
| CACNA1F | VTVGKFYATFLIQDYF-RKFRRRKE--KGL>L<-GN-DAA--------PSTSSA-L-QAGLRS | 1623 |
| CACNA1G | P-----QIPLAEMEAL-SLTSEIVS--EPS>C<------------------SLA------LTD | 2002 |
| CACNA1H | R-----PLQEVEMETYGAGTPLGSV--ASV>H<-SP-PAE-SCASLQIPLAVSS------PAR | 1990 |
| CACNA1I | CHHDKQEVQLAETEAF-SLNSDRSS--SIL>L<-GD-DLS-LEDPTACPPGRKD------SKG | 1889 |
| CACNA1S | VTVGKFYATFLIQEHF-RKFMKRQE--EYY>-<-GY--RP--------KKDIVQ-I-QAGLRT | 1561 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A1924T | c.5770G>A | Inherited Arrhythmia | BrS | rs137854603 | SIFT: tolerated Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. Cardiovasc Res. 1999 44(3):507-17. 10690282 | ||
| Inherited Arrhythmia | BrS | Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. J Am Coll Cardiol. 2002 40(2):350-6. 12106943 | |||
| Inherited Arrhythmia | BrS | Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. Heart Rhythm. 2009 6(3):341-8. 19251209 | |||
| Inherited Arrhythmia | BrS | 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 | BrS | High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114 | |||
| Other Cardiac Phenotype | Loss-of-Function SCN5A Mutations Associated with Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture. Circ Arrhythm Electrophysiol. 2015 26111534 | ||||