Sequence information
Variant position: 187 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1581 The length of the canonical sequence.
Location on the sequence:
LRFCLTGLLVILYGMLLLVE
V NVIRVRRYIFFKTPREVKPP
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 LRFCLTGLLVILYGMLLLVEV NVIRVRRYIFFKTPREVKPP
Rat LRFCLTGLLVILYGMLLLVEV NVIRVRRYVFFKTPREVKPP
Slime mold YNVGFLEYFSYFVGYCLILIL SITSV---LFFD---NLESY
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
Chain
1 – 1581
ATP-binding cassette sub-family C member 8
Transmembrane
168 – 194
Helical; Name=5
Alternative sequence
51 – 1581
Missing. In isoform 3.
Literature citations
A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.
Otonkoski T.; Aemmaelae C.; Huopio H.; Cote G.J.; Chapman J.; Cosgrove K.; Ashfield R.; Huang E.; Komulainen J.; Ashcroft F.M.; Dunne M.J.; Kere J.; Thomas P.M.;
Diabetes 48:408-415(1999)
Cited for: VARIANT HHF1 ASP-187;
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: VARIANTS HHF1 ASP-187; THR-1457; LYS-1506; ASP-1550 AND VAL-1551;
Disclaimer:
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.