No paralogue variants have been mapped to residue 127 for KCNH2.
KCNH2 | --------------PVK---NEDGAVIMFI>L<NFEVVMEKDM-VG----------------- | 139 |
KCNH1 | --------------PIR---NEQDKVVLFL>C<TFSDITAFKQ-PI----------------- | 140 |
KCNH3 | --------------PIK---NEKGEVALFL>V<SHKDISETK-NRG----------------- | 140 |
KCNH4 | --------------PIK---NEMGEVVLFL>F<SFKDITQSGSPGL----------------- | 141 |
KCNH5 | --------------PIR---NEHEKVVLFL>C<TFKDITLFKQ-PI----------------- | 138 |
KCNH6 | --------------PVK---NEDGAVIMFI>L<NFEDLAQL---------------------- | 135 |
KCNH7 | --------------PVK---NQEGVAMMFI>I<NFEYVTDNEN-AA----------------- | 139 |
KCNH8 | --------------PIK---NEKGDVVLFL>A<SFKDITDTK-VKI----------------- | 140 |
CNGA1 | --------------PSQREQYLPGAIALFN>V<NNSSNKDQ---------------------- | 100 |
CNGA2 | ---------------FRRIVRLVGIIREWA>N<KNFREEEP---------------------- | 89 |
CNGA3 | ---------------IARLSRLIFLLRRWA>A<RHVHHQDQ---------------------- | 93 |
CNGA4 | ------------------------------>-<------DT---------------------- | 5 |
CNGB1 | HRLEMALPQPVLHGKIG---EQEPDSPGIC>D<VQTISILPGG---QVEPDLVLEEVEPPWED | 315 |
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.Leu127Phe | c.379C>T | Unknown | SIFT: Polyphen: |