No paralogue variants have been mapped to residue 996 for KCNH2.
KCNH2 | -----------EKSSDTCNPLSG-AFSGVS>N<IFS-------------------------FW | 1001 |
KCNH1 | ----------ECLGPKGGGGDCAK----RK>S<WAR-------------------------FK | 841 |
KCNH3 | ----------LRLPPMPWNVPPDLSPRVVD>G<IED-------------------------GC | 832 |
KCNH4 | ----------LLIPPLGTFGPPDLSPRIVD>G<IED-------------------------SG | 835 |
KCNH5 | ----------ADQKCLKVNSPIRMKNGNGK>G<WLR-------------------------LK | 815 |
KCNH6 | ----------LEQLQAQMNRLESRVSSDLS>R<ILQ-------------------------LL | 851 |
KCNH7 | ----------IDKRSHSCKDITDMRSWERE>N<AHP-------------------------QP | 1004 |
KCNH8 | ----------LQLSTLNNAGPPDLSPRIVD>G<IED-------------------------GN | 821 |
CNGA1 | ------------------------------>-<------------------------------ | |
CNGA2 | ------------------------------>-<------------------------------ | |
CNGA3 | ------------------------------>-<------------------------------ | |
CNGA4 | -------------------------E---->-<------------------------------ | 563 |
CNGB1 | -----------------------------A>-<----------------------------TD | 1182 |
CNGB3 | -----------------------------N>-<----------------------------ED | 739 |
HCN1 | TAVCSPPVQSPLAARTFHYASPTASQLSLM>Q<---------------------------QQP | 734 |
HCN2 | PAAASPG------------PPPPASP---->-<-----------------------------P | 781 |
HCN3 | GSPASPL------------VPVRAGPWAST>S<---------------------------RLP | 672 |
HCN4 | PSPAPPGARGGLGLPEHFLPPPPSSRSPSS>S<PGQLGQPPGELSLGLATGPLSTPETPPRQP | 1001 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N996I | c.2987A>T | Inherited Arrhythmia | LQTS | rs199473018 | SIFT: tolerated Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
Inherited Arrhythmia | LQTS | Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome. Heart Rhythm. 2004 1(1):60-4. 15851119 | |||
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 | Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome. EMBO J. 2013 32(24):3161-75. doi: 10.1038/emboj.2013.240. 24213244 | |||
p.N996K | c.2988C>A | Putative Benign | SIFT: tolerated Polyphen: probably damaging |