No paralogue variants have been mapped to residue 248 for KCNJ2.
KCNJ2 | RKSHLVEAHVRAQLLKSRITSEGEYIPLDQ>I<DINVGFD--SGIDRIFLVSPITIVHEIDED | 276 |
KCNJ1 | RKSLLIGSHIYGKLLKTTVTPEGETIILDQ>I<NINFVVD--AGNENLFFISPLTIYHVIDHN | 275 |
KCNJ3 | RNSHMVSAQIRCKLLKSRQTPEGEFLPLDQ>L<ELDVGFS--TGADQLFLVSPLTICHVIDAK | 277 |
KCNJ4 | RKSHIVEAHVRAQLIKPYMTQEGEYLPLDQ>R<DLNVGYD--IGLDRIFLVSPIIIVHEIDED | 268 |
KCNJ5 | RNSHIVEASIRAKLIKSRQTKEGEFIPLNQ>T<DINVGFD--TGDDRLFLVSPLIISHEINQK | 283 |
KCNJ6 | RNSHIVEASIRAKLIKSKQTSEGEFIPLNQ>T<DINVGYY--TGDDRLFLVSPLIISHEINQQ | 286 |
KCNJ8 | RKSMIISASVRIQVVKKTTTPEGEVVPIHQ>L<DIPVDNP--IESNNIFLVAPLIICHVIDKR | 274 |
KCNJ9 | RSSHIVEASIRAKLIRSRQTLEGEFIPLHQ>T<DLSVGFD--TGDDRLFLVSPLVISHEIDAA | 254 |
KCNJ10 | RKSLLIGCQVTGKLLQTHQTKEGENIRLNQ>V<NVTFQVD--TASDSPFLILPLTFYHVVDET | 262 |
KCNJ11 | RKSMIISATIHMQVVRKTTSPEGEVVPLHQ>V<DIPMENG--VGGNSIFLVAPLIIYHVIDAN | 264 |
KCNJ12 | RKSHIVEAHVRAQLIKPRVTEEGEYIPLDQ>I<DIDVGFD--KGLDRIFLVSPITILHEIDEA | 277 |
KCNJ13 | RPSPLTSVRVSAVLYQERENGK----L-YQ>T<SVDFHLDGISSDECPFFIFPLTYYHSITPS | 250 |
KCNJ14 | RRSHLVEAHVRAQLLQPRVTPEGEYIPLDH>Q<DVDVGFD--GGTDRIFLVSPITIVHEIDSA | 281 |
KCNJ15 | RKSLLIQCQLSGKLLQTHVTKEGERILLNQ>A<TVKFHVD--SSSESPFLILPMTFYHVLDET | 261 |
KCNJ16 | RPNHVVEGTVRAQLLRYTEDSEGRM-TMAF>K<DLKLV------NDQIILVTPVTIVHEIDHE | 260 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I248M | c.744A>G | Putative Benign | SIFT: Polyphen: |