No paralogue variants have been mapped to residue 40 for KCNJ2.
KCNJ2 | SSEEDGM--KLATMAVANGF-GNGKSKVHT>R<QQCRSRFVKKDGHCNVQFINVGEKGQ--RY | 68 |
KCNJ1 | LTESMFK--HLRK------W-VVT-R-FFG>H<SRQRARLVSKDGRCNIEFGNVEA-QSRFIF | 64 |
KCNJ3 | SSSGS----GLQPQG--PGQ-D-PQQQLV->P<KKKRQRFVDKNGRCNVQHGNLGSETS--RY | 67 |
KCNJ4 | ----------------------NGQAHVP->R<RKRRNRFVKKNGQCNVYFANLSNKSQ--RY | 42 |
KCNJ5 | PWDPKKIPKQARDYV--PIATD-RTRLLAE>G<KKPRQRYMEKSGKCNVHHGNVQ-ETY--RY | 73 |
KCNJ6 | IHQP-KLPKQARDDL--PRHIS-RDR---->T<KRKIQRYVRKDGKCNVHHGNVR-ETY--RY | 76 |
KCNJ8 | RIAA---------------E-NLRKP-RIR>D<RLPKARFIAKSGACNLAHKNIR-EQG--RF | 56 |
KCNJ9 | AFSP-------------------GQE-EPP>R<RRGRQRYVEKDGRCNVQQGNVR-ETY--RY | 44 |
KCNJ10 | TQTES------------------R-P-LMG>P<GIRRRRVLTKDGRSNVRMEHIADKRF--LY | 51 |
KCNJ11 | RLA----------------E-DPAKP-RYR>A<RQRRARFVSKKGNCNVAHKNIR-EQG--RF | 55 |
KCNJ12 | SSEEDGL--HLVTMSGANGF-GNGK--VHT>R<RRCRNRFVKKNGQCNIEFANMDEKSQ--RY | 67 |
KCNJ13 | MDSSNCK--VIAP------L-L-------->-<SQRYRRMVTKDGHSTLQMDGAQR-GL--AY | 40 |
KCNJ14 | DEEEAGP--GLCRNGWAPAP-VQS----P->V<GRRRGRFVKKDGHCNVRFVNLGGQGA--RY | 73 |
KCNJ15 | PLVKH------------------T-A-GAG>L<KANRPRVMSKSGHSNVRIDKVDGIYL--LY | 50 |
KCNJ16 | NADAKYP-----------GY-PPEH-IIAE>K<RRARRRLLHKDGSCNVYFKHIFGEWG--SY | 57 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R40Q | c.119G>A | Putative Benign | SIFT: Polyphen: |