No paralogue variants have been mapped to residue 64 for KCNH2.
KCNH2 | VEN-CAVI-YCNDGFCELCGYSRAEVMQRP>C<TCDFLHGPRTQRRAAAQ-IAQ--------- | 84 |
KCNH1 | IVD-WPIV-YSNDGFCKLSGYHRAEVMQKS>S<TCSFMYGELTDKDTIEK-VRQ--------- | 85 |
KCNH3 | VAGLFPVV-YCSDGFCDLTGFSRAEVMQRG>C<ACSFLYGPDTSELVRQQ-IRK--------- | 85 |
KCNH4 | GTRGFPIV-YCSDGFCELTGYGRTEVMQKT>C<SCRFLYGPETSEPALQR-LHK--------- | 85 |
KCNH5 | IVD-WPVV-YSNDGFCKLSGYHRADVMQKS>S<TCSFMYGELTDKKTIEK-VRQ--------- | 83 |
KCNH6 | MEN-CAII-YCNDGFCELFGYSRVEVMQQP>C<TCDFLTGPNTPSSAVSR-LAQ--------- | 84 |
KCNH7 | VQN-CAII-YCNDGFCEMTGFSRPDVMQKP>C<TCDFLHGPETKRHDIAQ-IAQ--------- | 84 |
KCNH8 | VAKGFPIV-YCSDGFCELAGFARTEVMQKS>C<SCKFLFGVETNEQLMLQ-IEK--------- | 85 |
CNGA1 | -------R-RMEN----------------->-<----------------G-ACS--------- | 40 |
CNGA2 | ----------NHNHHA------PPA----->-<-----IKANGK-DDHRT-SSR--------- | 37 |
CNGA3 | -------KVKTSD----------------->-<-----RDLNRA-EN--G-LSR--------- | 34 |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | VIP-QPVH-SITE----------------D>P<AQILGHGSTGDTGCTDE-PNE--------- | 145 |
CNGB3 | ------------------------------>-<------------------------------ | |
HCN1 | ------------------------------>-<------------------------------ | |
HCN2 | ------------------------------>-<------------------------------ | |
HCN3 | ------------------------------>-<------------------------------ | |
HCN4 | -----------EDAEEEG-AGGRQDPSRRS>I<RLRPLPSPSPSAAAGGTESRSSALGAADSE | 78 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C64W | c.192C>G | Inherited Arrhythmia | LQTS | rs199473414 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||
Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
Inherited Arrhythmia | LQTS | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||
p.C64Y | c.191G>A | Inherited Arrhythmia | LQTS | rs199473415 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003 40(2):141-5. 12566525 | ||
Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
Inherited Arrhythmia | LQTS | Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429 | |||
Inherited Arrhythmia | LQTS | Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810 | |||
p.C64R | c.190T>C | Putative Benign | SIFT: deleterious Polyphen: probably damaging |