No paralogue variants have been mapped to residue 43 for KCNJ2.
KCNJ2 | EDGM--KLATMAVANGF-GNGKSKVHTRQQ>C<RSRFVKKDGHCNVQFINVGEKGQ--RYLAD | 71 |
KCNJ1 | SMFK--HLRK------W-VVT-R-FFGHSR>Q<RARLVSKDGRCNIEFGNVEA-QSRFIFFVD | 67 |
KCNJ3 | GS----GLQPQG--PGQ-D-PQQQLV-PKK>K<RQRFVDKNGRCNVQHGNLGSETS--RYLSD | 70 |
KCNJ4 | -------------------NGQAHVP-RRK>R<RNRFVKKNGQCNVYFANLSNKSQ--RYMAD | 45 |
KCNJ5 | PKKIPKQARDYV--PIATD-RTRLLAEGKK>P<RQRYMEKSGKCNVHHGNVQ-ETY--RYLSD | 76 |
KCNJ6 | P-KLPKQARDDL--PRHIS-RDR----TKR>K<IQRYVRKDGKCNVHHGNVR-ETY--RYLTD | 79 |
KCNJ8 | A---------------E-NLRKP-RIRDRL>P<KARFIAKSGACNLAHKNIR-EQG--RFLQD | 59 |
KCNJ9 | P-------------------GQE-EPPRRR>G<RQRYVEKDGRCNVQQGNVR-ETY--RYLTD | 47 |
KCNJ10 | ES------------------R-P-LMGPGI>R<RRRVLTKDGRSNVRMEHIADKRF--LYLKD | 54 |
KCNJ11 | ----------------E-DPAKP-RYRARQ>R<RARFVSKKGNCNVAHKNIR-EQG--RFLQD | 58 |
KCNJ12 | EDGL--HLVTMSGANGF-GNGK--VHTRRR>C<RNRFVKKNGQCNIEFANMDEKSQ--RYLAD | 70 |
KCNJ13 | SNCK--VIAP------L-L---------SQ>R<YRRMVTKDGHSTLQMDGAQR-GL--AYLRD | 43 |
KCNJ14 | EAGP--GLCRNGWAPAP-VQS----P-VGR>R<RGRFVKKDGHCNVRFVNLGGQGA--RYLSD | 76 |
KCNJ15 | KH------------------T-A-GAGLKA>N<RPRVMSKSGHSNVRIDKVDGIYL--LYLQD | 53 |
KCNJ16 | AKYP-----------GY-PPEH-IIAEKRR>A<RRRLLHKDGSCNVYFKHIFGEWG--SYVVD | 60 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C43Y | c.128G>A | Putative Benign | SIFT: Polyphen: |