No paralogue variants have been mapped to residue 1090 for SCN5A.
SCN5A | -------------------GGPEAP----->P<DSRTWSQVSATASS------EA-------- | 1106 |
SCN1A | ------------------------------>-<------------------------------ | |
SCN2A | ------------------------------>-<------------------------------ | |
SCN3A | ------------------------------>-<------------------------------ | |
SCN4A | ------------------------------>-<------------------------------ | |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | ------------------------------>-<------------------------------ | |
SCN9A | ------------------------------>-<------------------------------ | |
SCN10A | ------------------------------>-<------------------------------ | |
SCN11A | ------------------------------>-<--------HQENKK------PT-------- | 957 |
CACNA1A | QDLGRQDPPLAEDIDNMKNNKLATAESAAP>H<GSLGHAGLPQSPAKMGNSTDPGPMLAIPAM | 1113 |
CACNA1B | ---------------------------EKE>-<-------ATEKEAEIVEADKEKELR-NHQP | 1023 |
CACNA1C | ------------------------------>E<MPVGPRP----------------------- | 859 |
CACNA1D | ------------------------------>E<VPAGPRP----------------------- | 865 |
CACNA1E | ------------------------------>-<-------MGRVI-------S------QSEP | 1051 |
CACNA1F | ------------------------------>E<EEGAGGV----------------------- | 830 |
CACNA1G | ------------------------------>N<LSKGERV----------------------- | 1236 |
CACNA1H | ------------------------------>E<DSCCLRL----------------------- | 1254 |
CACNA1I | ------------------------------>D<YTLCFRV----------------------- | 1130 |
CACNA1S | ------------------------------>E<IPLSPRP----------------------- | 758 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P1090L | c.3269C>T | Inherited Arrhythmia | rs1805125 | SIFT: tolerated Polyphen: benign | |
Reports | Putative Benign | Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population. J Hum Genet. 2000 45(3):182-3. 10807545 | |||
Inherited Arrhythmia | BrS | R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese. J Med Genet. 2005 author reply e8. 15689442 | |||
Putative Benign | Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms. J Hum Genet. 2005 50(9):490-6. 16155735 | ||||
Other Cardiac Phenotype | Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia. Ann Noninvasive Electrocardiol. 2008 13(2):180-90. 18426444 | ||||
Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | ||||
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 | ||||
Unknown | Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart Rhythm. 2005 2(7):741-7. 15992732 | ||||
Unknown | Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024. 27153395 | ||||
Inherited Arrhythmia | AF | SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia. Mol Genet Metab. 2008 93(4):468-74. 18368697 | |||
Other Cardiac Phenotype | SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia. Mol Genet Metab. 2008 93(4):468-74. 18368697 | ||||
Other Cardiac Phenotype | SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia. Mol Genet Metab. 2008 93(4):468-74. 18368697 |