No paralogue variants have been mapped to residue 1954 for SCN5A.
SCN5A | -----------------------------S>E<------------------------------ | 1954 |
SCN1A | -----------------------------N>E<------------------------------ | 1966 |
SCN2A | -----------------------------N>E<------------------------------ | 1956 |
SCN3A | -----------------------------N>G<------------------------------ | 1951 |
SCN4A | -----------------GHE---------N>G<------------------------------ | 1785 |
SCN7A | -----------------------------K>E<------------------------------ | 1674 |
SCN8A | -----------------------------N>G<------------------------------ | 1928 |
SCN9A | -----------------------------N>E<------------------------------ | 1928 |
SCN10A | -----------------------------N>E<------------------------------ | 1901 |
SCN11A | -----------------------------N>G<------------------------------ | 1765 |
CACNA1A | ---QNALPS-TQLDPGGALM---AHESGLK>E<SPSWVTQRAQEMFQKTGTWSPEQGPPTDMP | 2057 |
CACNA1B | LR-QKS--S-TSLSNGGAIQ---NQESGIK>E<SVSWGTQRTQDAPHEA-RPPLERGHSTEIP | 1965 |
CACNA1C | ---ISG----DLTAEEE-LD-K-AMKEAVS>A<------------------------------ | 1689 |
CACNA1D | ---ISC----DLQDDEP-EE-----TKR-->-<------------------------------ | 1692 |
CACNA1E | ---AKALPY-LQQDPVSGL-------SGRS>G<YPSMSPLSPQDIFQLACMDPADDGQFQERQ | 1964 |
CACNA1F | ---LTC----DTEEEEE-EG-----QEGVE>E<------------------------------ | 1652 |
CACNA1G | -DDMHTLLLSALESN-MQPH---PTELPGP>D<LLTVRKSGVSRTHSLPNDSYMCRHGSTAEG | 2062 |
CACNA1H | GTARSPSLSRLLCRQ-EAVH---TDSLEGK>I<DSPRDTLDPAEPGEKTPVRPVTQGGSLQSP | 2058 |
CACNA1I | PMRVGDLGECFFPLS-STAVSPDPENFLCE>M<EEIPFNPVRSWLKHDSSQAPPSPFSPDASS | 1955 |
CACNA1S | ---VSG----DLAAEEE-LE-----RAMVE>A<------------------------------ | 1591 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E1954K | c.5860G>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 |