Sequence information
Variant position: 1506 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:
RQLFCLARAFVRKTSIFIMD
E ATASIDMATENILQKVVMTA
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 RQLFCLARAFVRKTSIFIMDE ATASIDMATENILQKVVMTA
Rat RQLFCLARAFVRKTSIFIMDE ATASIDMATENILQKVVMTA
Slime mold RQLLVIGRALLKKANIIVLDE ASSSIDIASDALIQETIRTK
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
Topological domain
1298 – 1581
Cytoplasmic
Domain
1344 – 1578
ABC transporter 2
Alternative sequence
51 – 1581
Missing. In isoform 3.
Literature citations
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.
Huopio H.; Reimann F.; Ashfield R.; Komulainen J.; Lenko H.-L.; Rahier J.; Vauhkonen I.; Kere J.; Laakso M.; Ashcroft F.; Otonkoski T.;
J. Clin. Invest. 106:897-906(2000)
Cited for: CHARACTERIZATION OF VARIANT HHF1 LYS-1506;
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.