No paralogue variants have been mapped to residue 94 for KCNH2.
KCNH2 | ----------------GAEE-R-------K>V<E-IAFYRK-----------DGS-------- | 104 |
KCNH1 | ----------------NYEM-N-------S>F<E-ILMYKK-----------NRT-------- | 105 |
KCNH3 | ----------------EHKE-F-------K>A<E-LILYRK-----------SGL-------- | 105 |
KCNH4 | ----------------GHQE-H-------R>A<E-ICFYRK-----------DGS-------- | 105 |
KCNH5 | ----------------NYES-N-------C>F<E-VLLYKK-----------NRT-------- | 103 |
KCNH6 | ----------------GAEE-C-------K>V<D-ILYYRK-----------DAS-------- | 104 |
KCNH7 | ----------------GSEE-R-------K>V<E-VTYYHK-----------NGS-------- | 104 |
KCNH8 | ----------------EKTE-F-------K>G<E-IMFYKK-----------NGS-------- | 105 |
CNGA1 | ----------------EDDD-SASTSEESE>N<EN-PHA-R-----------GSF-------- | 66 |
CNGA2 | ----------------AADDDTSSE----->-<---LQR-L-----------ADV-------- | 56 |
CNGA3 | ----------------SSEE-TSSVLQPGI>A<ME-TRG-L-----------ADS-------- | 60 |
CNGA4 | ------------------------------>-<------------------------------ | |
CNGB1 | ----------------AQDT-R-------P>G<LRLLLWLEQNLERVLPQPPKSSEVWRDEPA | 185 |
CNGB3 | ------------------------------>-<------------------------------ | |
HCN1 | AAAEKRLGTPPGGGGAGAKE-H-------G>N<S-VCFKVD---------------------- | 62 |
HCN2 | NGECGRGEPQCSPAGPEGPA-R-------G>P<K-VSFSCR---------------------- | 128 |
HCN3 | ------------------------------>-<---APPPA---------------------- | 30 |
HCN4 | ------------------------------>-<----ASCE---------------------- | 180 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V94G | c.281T>G | Inherited Arrhythmia | LQTS | rs199472852 | 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 | 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.V94M | c.280G>A | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Genotype- and mutation site-specific QT adaptation during exercise, recovery, and postural changes in children with long-QT syndrome. Circ Arrhythm Electrophysiol. 2011 4(6):867-73. 21956039 |