No paralogue variants have been mapped to residue 31 for KCNH2.
| KCNH2 | ---IR----KFEGQSRK-----------FI>I<ANA-RVEN-CAVI-YCNDGFCELCGYSRAE | 58 |
| KCNH1 | ---VR----RS--NDTN-----------FV>L<GNA-QIVD-WPIV-YSNDGFCKLSGYHRAE | 59 |
| KCNH3 | ---AT----RFDGTHSN-----------FV>L<GNA-QVAGLFPVV-YCSDGFCDLTGFSRAE | 59 |
| KCNH4 | ---AT----RFDGTHSN-----------FL>L<ANA-QGTRGFPIV-YCSDGFCELTGYGRTE | 59 |
| KCNH5 | ---VR----RS--SESS-----------FL>L<GNA-QIVD-WPVV-YSNDGFCKLSGYHRAD | 57 |
| KCNH6 | ---IR----KFEGQSRK-----------FL>I<ANA-QMEN-CAII-YCNDGFCELFGYSRVE | 58 |
| KCNH7 | ---IR----KFEGQNKK-----------FI>I<ANA-RVQN-CAII-YCNDGFCEMTGFSRPD | 58 |
| KCNH8 | ---AT----RFDGTHSN-----------FI>L<ANA-QVAKGFPIV-YCSDGFCELAGFARTE | 59 |
| CNGA1 | NVIVP----DIEKE------------I--->-<------------R-RMEN------------ | 36 |
| CNGA2 | --SSP----AN------------------->-<---------------NHNHHA------PPA | 23 |
| CNGA3 | --SHP----SRTH-------------L--->-<------------KVKTSD------------ | 22 |
| CNGA4 | ------------------------------>-<------------------------------ | |
| CNGB1 | ---TSTISLRAQGAEISEMNSPSRRVLTWL>M<KGVEKVIP-QPVH-SITE------------ | 123 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | ----------GKPNS--------------->-<------------------------------ | 9 |
| HCN2 | ----G----GGRPGE--------------->-<------------------------------ | 12 |
| HCN3 | ----------QRPAA--------------->-<------------------------------ | 9 |
| HCN4 | ----A----WIMDEE--------------->-<----------------EDAEEEG-AGGRQD | 42 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.I31S | c.92T>G | Inherited Arrhythmia | LQTS | rs199472833 | SIFT: deleterious Polyphen: benign |
| 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 | Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. Circulation. 2006 113(3):365-73. 16432067 | |||
| Inherited Arrhythmia | LQTS | An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. Circ Res. 2013 112(5):826-30. doi: 10.1161/CIRCRESAHA.112.300664. 23303164 | |||
| p.I31T | c.92T>C | Inherited Arrhythmia | LQTS | rs199472833 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Genotype-phenotype aspects of type 2 long QT syndrome. J Am Coll Cardiol. 2009 54(22):2052-62. 19926013 | ||
| Inherited Arrhythmia | LQTS | Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome. Clin Chim Acta. 2011 412(1-2):203-7. 20851114 | |||