No paralogue variants have been mapped to residue 246 for KCNJ2.
KCNJ2 | NLRKSHLVEAHVRAQLLKSRITSEGEYIPL>D<QIDINVGFD--SGIDRIFLVSPITIVHEID | 274 |
KCNJ1 | NLRKSLLIGSHIYGKLLKTTVTPEGETIIL>D<QININFVVD--AGNENLFFISPLTIYHVID | 273 |
KCNJ3 | NLRNSHMVSAQIRCKLLKSRQTPEGEFLPL>D<QLELDVGFS--TGADQLFLVSPLTICHVID | 275 |
KCNJ4 | NLRKSHIVEAHVRAQLIKPYMTQEGEYLPL>D<QRDLNVGYD--IGLDRIFLVSPIIIVHEID | 266 |
KCNJ5 | DLRNSHIVEASIRAKLIKSRQTKEGEFIPL>N<QTDINVGFD--TGDDRLFLVSPLIISHEIN | 281 |
KCNJ6 | DLRNSHIVEASIRAKLIKSKQTSEGEFIPL>N<QTDINVGYY--TGDDRLFLVSPLIISHEIN | 284 |
KCNJ8 | DLRKSMIISASVRIQVVKKTTTPEGEVVPI>H<QLDIPVDNP--IESNNIFLVAPLIICHVID | 272 |
KCNJ9 | DLRSSHIVEASIRAKLIRSRQTLEGEFIPL>H<QTDLSVGFD--TGDDRLFLVSPLVISHEID | 252 |
KCNJ10 | NMRKSLLIGCQVTGKLLQTHQTKEGENIRL>N<QVNVTFQVD--TASDSPFLILPLTFYHVVD | 260 |
KCNJ11 | DLRKSMIISATIHMQVVRKTTSPEGEVVPL>H<QVDIPMENG--VGGNSIFLVAPLIIYHVID | 262 |
KCNJ12 | NLRKSHIVEAHVRAQLIKPRVTEEGEYIPL>D<QIDIDVGFD--KGLDRIFLVSPITILHEID | 275 |
KCNJ13 | NTRPSPLTSVRVSAVLYQERENGK----L->Y<QTSVDFHLDGISSDECPFFIFPLTYYHSIT | 248 |
KCNJ14 | NLRRSHLVEAHVRAQLLQPRVTPEGEYIPL>D<HQDVDVGFD--GGTDRIFLVSPITIVHEID | 279 |
KCNJ15 | NMRKSLLIQCQLSGKLLQTHVTKEGERILL>N<QATVKFHVD--SSSESPFLILPMTFYHVLD | 259 |
KCNJ16 | DFRPNHVVEGTVRAQLLRYTEDSEGRM-TM>A<FKDLKLV------NDQIILVTPVTIVHEID | 258 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D246Y | c.736G>T | Putative Benign | SIFT: Polyphen: |