No paralogue variants have been mapped to residue 948 for KCNH2.
| KCNH2 | GESPSSGPSS-------PESSEDEGP---G>R<SSSPLRLVPFSSP-RPPGEPPGGEPLMEDC | 977 |
| KCNH1 | GNVLTEHASA-------NHSLVKASV---V>T<VRESPATPVSFQA-ASTSGVPDHAKLQAPG | 818 |
| KCNH3 | LSPGCTSSSSAAKLLSPRRTAPRPRL---G>G<RGRPGRAGALKAE-AGPSAPPRALEG---- | 806 |
| KCNH4 | PR--GSLVSLLGEELPPFSALVSSPS---L>S<PSLSPALAGQGHS-ASPHGPPRCSAAWKPP | 808 |
| KCNH5 | RSLQNGASIT-------GTSVVTVSQ---I>T<PIQTSLAYVKTSE-SLKQNNRDAMELKPNG | 788 |
| KCNH6 | APG-HPDAAP-------PLSISDASG---L>W<PELLQEMPPRHSP-QSPQEDPDCWPLKLGS | 824 |
| KCNH7 | EEKKSRSSSF-------ISSIDDEQK---P>L<FSGIVDSSPGIGK-ASGLDFEETVPTSGRM | 977 |
| KCNH8 | NKKVGSNKAYLGLSLKQLASGT-VPF---H>S<PIRVSRSNSPKTK-QEIDPPNHNKRKEKNL | 794 |
| CNGA1 | TEFSSIEGPG---------AESGPID---S>-<------------------------------ | 689 |
| CNGA2 | DDYLSDGMNS---------PELAAAD---E>-<------------------------------ | 663 |
| CNGA3 | DKPLADGEVPG-------DATKTEDK---Q>-<------------------------------ | 693 |
| CNGA4 | DLAEADDEGE---------PEEGTSK---D>E<------------------------------ | 562 |
| CNGB1 | QAKSSQDVKGE-------EGSAAPDQ---->-<------HTHPKEA----------------- | 1179 |
| CNGB3 | EGKENEDKQKE-------NEDKQKEN---->-<------EDKGKE------------------ | 736 |
| HCN1 | RMRTQSPPVYT-------ATSLSHSNL-H->-<------S----------------------- | 680 |
| HCN2 | ATLQQAAAMSF-------CPQVARPLVGP->-<------------------------------ | 749 |
| HCN3 | HAPLQAAAVTS-------NVAIALTHQRG->-<------P----------------------- | 630 |
| HCN4 | QAPLQAAAATT-------SVAIALTHHPRL>P<AAIFRPPPGSGLGNLGAGQTPRHLKRLQSL | 832 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R948C | c.2842C>T | Inherited Arrhythmia | LQTS | rs121912514 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet. 2006 70(3):214-27. 16922724 | ||
| p.R948H | c.2843G>A | Inherited Arrhythmia | LQTS | rs199473011 | SIFT: tolerated Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | LQTS | Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041 | ||
| p.R948S | c.2842C>A | Inherited Arrhythmia | LQTS | rs121912514 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041 | ||