Variant position: 67 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 KNIREQGRFLQDVFTTLVDL KWPHTLLIFTMSFLCSWLLFA
Mouse KNIREQGRFLQDVFTTLVDL KWPHTLLIFTMSFLCSWLLFA
Rat KNIREQGRFLQDVFTTLVDL KWPHTLLIFTMSFLCSWLLFA
Rabbit KNIREQGRFLQDVFTTLVDL KWTHTLLIFTMSFLCSWLLFA
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
1 – 68 Cytoplasmic
1 – 87 Missing. In isoform 2.
64 – 64 V -> M. Displays gain of function; increased open state stability, reduced ATP sensitivity and increased channel activity; almost completely abolishes high affinity sensitivity to glibenclamide, an inhibitor of ATP-sensitive potassium channels.
Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism.
Huopio H.; Jaeaeskelaeinen J.; Komulainen J.; Miettinen R.; Kaerkkaeinen P.; Laakso M.; Tapanainen P.; Voutilainen R.; Otonkoski T.;
J. Clin. Endocrinol. Metab. 87:4502-4507(2002)
Cited for: VARIANT HHF2 ASN-67;
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