Variant position: 301 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 LEIIVILEGVVETTGITTQA RTSYLADEILWGQRFVPIVAE
Mouse LEIIVILEGVVETTGITTQA RTSYLADEILWGQRFVPIVAE
Rat LEIIVILEGVVETTGITTQA RTSYLADEILWGQRFVPIVAE
Rabbit LEIIVILEGVVETTGITTQA RTSYLADEILWGQRFVPIVAE
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
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.
Henwood M.J.; Kelly A.; MacMullen C.; Bhatia P.; Ganguly A.; Thornton P.S.; Stanley C.A.;
J. Clin. Endocrinol. Metab. 90:789-794(2005)
Cited for: VARIANTS HHF2 ASP-101; ALA-134; LEU-136; LEU-266 AND HIS-301;
Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.
Suchi M.; MacMullen C.M.; Thornton P.S.; Adzick N.S.; Ganguly A.; Ruchelli E.D.; Stanley C.A.;
Mod. Pathol. 19:122-129(2006)
Cited for: VARIANTS HHF2 ASP-40; ASP-101; PRO-116; LEU-136 AND HIS-301;
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.