Variant position: 333 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 390 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human QRFVPIVAEEDGRYSVDYSK FGNTIKVPTPLCTARQLDEDH
Mouse QRFVPIVAEEDGRYSVDYSK FGNTIKVPTPLCTARQLDEDR
Rat QRFVPIVAEEDGRYSVDYSK FGNTVKVPTPLCTARQLDEDR
Rabbit QRFVPIVAEEDGRYSVDYSK FGNTVKVPTPLCTARQLDEDR
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 390 ATP-sensitive inward rectifier potassium channel 11
167 – 390 Cytoplasmic
341 – 341 Phosphothreonine; by MAPK1
A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.
Tammaro P.; Ashcroft F.M.;
J. Physiol. (Lond.) 584:743-753(2007)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT PNDM2 ILE-333; INTERACTION WITH ABCC9;
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
Sagen J.V.; Raeder H.; Hathout E.; Shehadeh N.; Gudmundsson K.; Baevre H.; Abuelo D.; Phornphutkul C.; Molnes J.; Bell G.I.; Gloyn A.L.; Hattersley A.T.; Molven A.; Soevik O.; Njoelstad P.R.;
Cited for: VARIANTS PNDM2 VAL-35; MET-59; HIS-201; CYS-330 AND ILE-333;
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