Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q09428: Variant p.Arg1420Cys

ATP-binding cassette sub-family C member 8
Gene: ABCC8
Feedback?
Variant information Variant position: help 1420 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Cysteine (C) at position 1420 (R1420C, p.Arg1420Cys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In HHF1; modest impairment of channel function. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1420 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1581 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         GHIIIDGIDIAKLPLHTLRSRLSIILQDPVLFSGTIRFNLD

Rat                           GRIIIDGIDIAKLPLHTLRSRLSIILQDPVLFSGTIRFNLD

Slime mold                    GTIEIDGIDITELGLNPLRSRMAIIPQDPVLFAGSVRYNLD
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
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.
Helix 1418 – 1420



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.