No paralogue variants have been mapped to residue 131 for KCNH2.
KCNH2 | ----------PVK---NEDGAVIMFILNFE>V<VMEKDM-VG--------------------- | 139 |
KCNH1 | ----------PIR---NEQDKVVLFLCTFS>D<ITAFKQ-PI--------------------- | 140 |
KCNH3 | ----------PIK---NEKGEVALFLVSHK>D<ISETK-NRG--------------------- | 140 |
KCNH4 | ----------PIK---NEMGEVVLFLFSFK>D<ITQSGSPGL--------------------- | 141 |
KCNH5 | ----------PIR---NEHEKVVLFLCTFK>D<ITLFKQ-PI--------------------- | 138 |
KCNH6 | ----------PVK---NEDGAVIMFILNFE>D<LAQL-------------------------- | 135 |
KCNH7 | ----------PVK---NQEGVAMMFIINFE>Y<VTDNEN-AA--------------------- | 139 |
KCNH8 | ----------PIK---NEKGDVVLFLASFK>D<ITDTK-VKI--------------------- | 140 |
CNGA1 | ----------PSQREQYLPGAIALFNVNNS>S<NKDQ-------------------------- | 100 |
CNGA2 | -----------FRRIVRLVGIIREWANKNF>R<EEEP-------------------------- | 89 |
CNGA3 | -----------IARLSRLIFLLRRWAARHV>H<HQDQ-------------------------- | 93 |
CNGA4 | ------------------------------>-<--DT-------------------------- | 5 |
CNGB1 | MALPQPVLHGKIG---EQEPDSPGICDVQT>I<SILPGG---QVEPDLVLEEVEPPWEDAHQD | 319 |
CNGB3 | ------------------------------>-<------------------------------ | |
HCN1 | ------------------------------>G<GGGGGG-GGG-------------------- | 72 |
HCN2 | ------------------------------>G<AASGPA-PGP-------------------- | 138 |
HCN3 | ------------------------------>T<AASGPI-PKS-------------------- | 40 |
HCN4 | ------------------------------>Q<PSVDTA-IKV-------------------- | 190 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V131L | c.391G>T | Putative Benign | rs142590566 | SIFT: tolerated Polyphen: benign |