No paralogue variants have been mapped to residue 937 for KCNH2.
| KCNH2 | RAGAGPSSRGRPGG---P--WGESPSSGPS>S<-------PESSEDEGP---GRSSSPLRLVP | 957 |
| KCNH1 | AAERGGRDLDDLDV---E--KGNVLTEHAS>A<-------NHSLVKASV---VTVRESPATPV | 798 |
| KCNH3 | P-TVSPAPADEPSS---P--LLSPGCTSSS>S<AAKLLSPRRTAPRPRL---GGRGRPGRAGA | 790 |
| KCNH4 | RPR-RPLLLPNLSP---A--RPR--GSLVS>L<LGEELPPFSALVSSPS---LSPSLSPALAG | 788 |
| KCNH5 | GSTQGDPERNQLQV---E--SRSLQNGASI>T<-------GTSVVTVSQ---ITPIQTSLAYV | 768 |
| KCNH6 | SQNSMG------AG---P--CAPG-HPDAA>P<-------PLSISDASG---LWPELLQEMPP | 804 |
| KCNH7 | DSADTIRHYQSSKR---H--FEEKKSRSSS>F<-------ISSIDDEQK---PLFSGIVDSSP | 957 |
| KCNH8 | EAVSLSPICTRGSS---S--RNKKVGSNKA>Y<LGLSLKQLASGT-VPF---HSPIRVSRSNS | 774 |
| CNGA1 | KQRLTKVEKFLKP-----LIDTEFSSIEGP>G<---------AESGPID---S---------- | 689 |
| CNGA2 | KQRITVLETKMKQ-----NNEDDYLSDGMN>S<---------PELAAAD---E---------- | 663 |
| CNGA3 | KQRLSQLESQVKG-----GG-DKPLADGEV>P<G-------DATKTEDK---Q---------- | 693 |
| CNGA4 | AYRIERLEWQTREW---PMPEDLAEADDEG>E<---------PEEGTSK---DE--------- | 562 |
| CNGB1 | ELAALEAAAKQQEL---V--EQAKSSQDVK>G<E-------EGSAAPDQ-----------HTH | 1175 |
| CNGB3 | KLKREQAAQKKENSEGGE--EEGKENEDKQ>K<E-------NEDKQKEN-----------EDK | 733 |
| HCN1 | QMTTLNSTSSTTTP---T--SRMRTQSPPV>Y<T-------ATSLSHSNL-H--------S-- | 680 |
| HCN2 | GLFPPPPPPPQVTS---A--IATLQQAAAM>S<F-------CPQVARPLVGP----------- | 749 |
| HCN3 | TGAQLSGKPVLWEP---L--VHAPLQAAAV>T<S-------NVAIALTHQRG--------P-- | 630 |
| HCN4 | ASATPTPTPVIWTP---L--IQAPLQAAAA>T<T-------SVAIALTHHPRLPAAIFRPPPG | 811 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S937N | c.2810G>A | Inherited Arrhythmia | LQTS | rs199473540 | SIFT: tolerated Polyphen: possibly 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 | ||