No paralogue variants have been mapped to residue 119 for KCNH2.
| KCNH2 | ----------------------PVK---NE>D<GAVIMFILNFEVVMEKDM-VG--------- | 139 |
| KCNH1 | ----------------------PIR---NE>Q<DKVVLFLCTFSDITAFKQ-PI--------- | 140 |
| KCNH3 | ----------------------PIK---NE>K<GEVALFLVSHKDISETK-NRG--------- | 140 |
| KCNH4 | ----------------------PIK---NE>M<GEVVLFLFSFKDITQSGSPGL--------- | 141 |
| KCNH5 | ----------------------PIR---NE>H<EKVVLFLCTFKDITLFKQ-PI--------- | 138 |
| KCNH6 | ----------------------PVK---NE>D<GAVIMFILNFEDLAQL-------------- | 135 |
| KCNH7 | ----------------------PVK---NQ>E<GVAMMFIINFEYVTDNEN-AA--------- | 139 |
| KCNH8 | ----------------------PIK---NE>K<GDVVLFLASFKDITDTK-VKI--------- | 140 |
| CNGA1 | ----------------------PSQREQYL>P<GAIALFNVNNSSNKDQ-------------- | 100 |
| CNGA2 | -----------------------FRRIVRL>V<GIIREWANKNFREEEP-------------- | 89 |
| CNGA3 | -----------------------IARLSRL>I<FLLRRWAARHVHHQDQ-------------- | 93 |
| CNGA4 | ------------------------------>-<--------------DT-------------- | 5 |
| CNGB1 | ARLVAWVLHRLEMALPQPVLHGKIG---EQ>E<PDSPGICDVQTISILPGG---QVEPDLVLE | 307 |
| CNGB3 | ------------------------------>-<------------------------------ | |
| HCN1 | ------------------------------>-<-----------GGGGGGG-GGG-------- | 72 |
| HCN2 | ------------------------------>-<-----------GAASGPA-PGP-------- | 138 |
| HCN3 | ------------------------------>-<-----------TAASGPI-PKS-------- | 40 |
| HCN4 | ------------------------------>-<-----------QPSVDTA-IKV-------- | 190 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D119H | c.355G>C | Other Cardiac Phenotype | rs376308069 | SIFT: deleterious Polyphen: benign | |
| Reports | Other Cardiac Phenotype | Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records. JAMA. 2016 315(1):47-57. doi: 10.1001/jama.2015.17701. 26746457 | |||
| p.D119G | c.356A>G | Putative Benign | SIFT: Polyphen: | ||