No paralogue variants have been mapped to residue 1017 for KCNH2.
KCNH2 | --------------------RQYQELPRCP>A<PTP-SLLN----IPL-SSPGRRPRGDV-ES | 1040 |
KCNH1 | -----------------------KSEDWNK>V<SKA-ESME----TLP-E------RTKA-S- | 869 |
KCNH3 | --------------------PKFSFRVGQS>G<PE--CSSSPSPGPES-G----LLTVPH-GP | 869 |
KCNH4 | --------------------PSFRFSRRPE>L<PRP-RSQA----PPT-GTRP-SPELAS-EA | 873 |
KCNH5 | --------------------HEEKKEDWNN>V<TKA-ESMG----LLS-EDPKSSDSENS-V- | 853 |
KCNH6 | --------------------QGHASYILEA>P<ASN-DLAL----VPI-ASETTSPGPRL-P- | 889 |
KCNH7 | --------------------SALQRAAWGI>S<ET----------------ESDLTYGEV-EQ | 1033 |
KCNH8 | --------------------QTFDFGSERI>R<SEP-RISP-----PLGDPEIGAAVLFI-KA | 860 |
CNGA1 | ------------------------------>-<T----------------------------- | 690 |
CNGA2 | ------------------------------>-<P----------------------------- | 664 |
CNGA3 | ------------------------------>-<Q----------------------------- | 694 |
CNGA4 | --------------------GRASQEGPPG>P<E----------------------------- | 575 |
CNGB1 | --------------------PRTPPEPP-->-<------G------SP-PSSPPPAS------ | 1204 |
CNGB3 | --------------------GREPEEKPLD>R<PECTA-S------PI-AVEEEPHS------ | 769 |
HCN1 | ------QQ-------------VQQSQPPQT>Q<PQQPS-PQPQTPG---S--STPKNEVH-KS | 770 |
HCN2 | ------A-P-------------ASPRAPR->-<---TS--------------PYGGLPAAPLA | 804 |
HCN3 | ------PP----------ARTLHASLSRAG>R<SQ-VSLLG--PP---------P-------- | 698 |
HCN4 | VGFTPRGGLSPPGHSPGPPRTFPSAPPRAS>G<SH-GSLLL--PPASS-P--PPPQVPQR-RG | 1070 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1017P | c.3049G>C | Benign | SIFT: tolerated Polyphen: benign |