Variant position: 259 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 PMENGVGGNSIFLVAPLIIY HVIDANSPLYDLAPSDLHHHQ
Mouse PMENGVGGNGIFLVAPLIIY HVIDSNSPLYDLAPSDLHHHQ
Rat PMENGVGGNSIFLVAPLIIY HVIDSNSPLYDLAPSDLHHHQ
Rabbit PMENGVGGNSIFLVAPLIIH HVIDANSPLYDLAPSDLHHHQ
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
Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function.
Marthinet E.; Bloc A.; Oka Y.; Tanizawa Y.; Wehrle-Haller B.; Bancila V.; Dubuis J.-M.; Philippe J.; Schwitzgebel V.M.;
J. Clin. Endocrinol. Metab. 90:5401-5406(2005)
Cited for: VARIANT HHF2 ARG-259; CHARACTERIZATION OF VARIANT HHF2 ARG-259;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.