Sequence information
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:
GHIIIDGIDIAKLPLHTLRS
R LSIILQDPVLFSGTIRFNLD
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 GHIIIDGIDIAKLPLHTLRSR LSIILQDPVLFSGTIRFNLD
Rat GRIIIDGIDIAKLPLHTLRSR LSIILQDPVLFSGTIRFNLD
Slime mold GTIEIDGIDITELGLNPLRSR MAIIPQDPVLFAGSVRYNLD
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
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.;
Diabetes 49:114-120(2000)
Cited for: CHARACTERIZATION OF VARIANTS HHF1 CYS-1420 AND GLN-1436; VARIANT SER-1369;
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.