Variant position: 1420 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:
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 GHIIIDGIDIAKLPLHTLRS RLSIILQDPVLFSGTIRFNLD
Rat GRIIIDGIDIAKLPLHTLRS RLSIILQDPVLFSGTIRFNLD
Slime mold GTIEIDGIDITELGLNPLRS RMAIIPQDPVLFAGSVRYNLD
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 – 1581 ATP-binding cassette sub-family C member 8
1298 – 1581 Cytoplasmic
1344 – 1578 ABC transporter 2
51 – 1581 Missing. In isoform 3.
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
Verkarre V.; Fournet J.-C.; de Lonlay P.; Gross-Morand M.-S.; Devillers M.; Rahier J.; Brunelle F.; Robert J.-J.; Nihoul-Fekete C.; Saudubray J.-M.; Junien C.;
J. Clin. Invest. 102:1286-1291(1998)
Cited for: VARIANTS HHF1 PRO-1352; CYS-1420 AND TRP-1493;
Clinical features of 52 neonates with hyperinsulinism.
de Lonlay-Debeney P.; Poggi-Travert F.; Fournet J.-C.; Sempoux C.; Vici C.D.; Brunelle F.; Touati G.; Rahier J.; Junien C.; Nihoul-Fekete C.; Robert J.-J.; Saudubray J.-M.;
N. Engl. J. Med. 340:1169-1175(1999)
Cited for: VARIANTS HHF1 GLY-841; CYS-1420 AND TRP-1493;
Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1.
Tanizawa Y.; Matsuda K.; Matsuo M.; Ohta Y.; Ochi N.; Adachi M.; Koga M.; Mizuno S.; Kajita M.; Tanaka Y.; Tachibana K.; Inoue H.; Furukawa S.; Amachi T.; Ueda K.; Oka Y.;
Cited for: CHARACTERIZATION OF VARIANTS HHF1 CYS-1420 AND GLN-1436; VARIANT SER-1369;
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