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UniProtKB/Swiss-Prot Q09428: Variant p.Ala1369Ser

ATP-binding cassette sub-family C member 8
Gene: ABCC8
Variant information

Variant position:  1369
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Alanine (A) to Serine (S) at position 1369 (A1369S, p.Ala1369Ser).
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:  Change from small size and hydrophobic (A) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1369
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:   LSVRYDSSLKPVLKHVNALI  A PGQKIGICGRTGSGKSSFSL
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                         LSVRYDSSLKPVLKHVNALIAPGQKIGICGRTGSGKSSFSL

Rat                           LSVRYDSSLKPVLKHVNALISPGQKIGICGRTGSGKSSFSL

Slime mold                    LWLTYREGLDPVLRGINCTIEPKTKVGIVGRTGAGKSSLTQ

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.

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.


Literature citations

Human beta cell sulfonylurea receptor, SUR1, expression.
Gonzalez G.; Aguilar-Bryan L.; Bryan J.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; ALTERNATIVE SPLICING; VARIANT SER-1369;

Submission
Thomas P.T.; Wohllk N.; Huang E.; Gagel R.F.; Cote G.J.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1); VARIANT SER-1369; VARIANT PNDM PRO-225;

Submission
Nishimura M.; Miki T.; Aizawa T.; Seino S.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT SER-1369;

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.
Thomas P.M.; Cote G.J.; Wohllk N.; Haddad B.; Mathew P.M.; Rabl W.; Aguilar-Bryan L.; Gagel R.F.; Bryan J.;
Science 268:426-429(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1187-1581; VARIANT SER-1369;

Sequence variants in the sulfonylurea receptor (SUR) gene are associated with NIDDM in Caucasians.
Inoue H.; Ferrer J.; Welling C.M.; Elbein S.C.; Hoffman M.; Mayorga R.; Warren-Perry M.; Zhang Y.; Millns H.; Turner R.; Province M.; Bryan J.; Permutt M.A.; Aguilar-Bryan L.;
Diabetes 45:825-831(1996)
Cited for: VARIANT SER-1369;

Mutations in the sulfonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.
Nestorowicz A.; Wilson B.A.; Schoor K.P.; Inoue H.; Glaser B.; Landau H.; Stanley C.A.; Thornton P.S.; Clement J.P. IV; Bryan J.; Aguilar-Bryan L.; Permutt M.A.;
Hum. Mol. Genet. 5:1813-1822(1996)
Cited for: VARIANT HHF1 PHE-1387 DEL; VARIANTS GLY-1360; SER-1369 AND ILE-1572;

Identification and functional analysis of sulfonylurea receptor 1 variants in Japanese patients with NIDDM.
Ohta Y.; Tanizawa Y.; Inoue H.; Hosaka T.; Ueda K.; Matsutani A.; Repunte V.P.; Yamada M.; Kurachi Y.; Bryan J.; Aguilar-Bryan L.; Permutt M.A.; Oka Y.;
Diabetes 47:476-481(1998)
Cited for: VARIANTS GLN-275; MET-560; ASN-810; CYS-834 AND SER-1369;

Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene.
Hansen T.; Echwald S.M.; Hansen L.; Moeller A.M.; Almind K.; Clausen J.O.; Urhammer S.A.; Inoue H.; Ferrer J.; Bryan J.; Aguilar-Bryan L.; Permutt M.A.; Pedersen O.;
Diabetes 47:598-605(1998)
Cited for: VARIANTS ASN-673 AND SER-1369;

Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism.
Glaser B.; Furth J.; Stanley C.A.; Baker L.; Thornton P.S.; Landau H.; Permutt M.A.;
Hum. Mutat. 14:23-29(1999)
Cited for: VARIANTS SER-1369 AND ILE-1572;

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;

Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy.
Ohkubo K.; Nagashima M.; Naito Y.; Taguchi T.; Suita S.; Okamoto N.; Fujinaga H.; Tsumura K.; Kikuchi K.; Ono J.;
Clin. Endocrinol. (Oxf.) 62:458-465(2005)
Cited for: VARIANTS HHF1 GLN-1384 AND LYS-1486; VARIANT SER-1369;

Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).
Fernandez-Marmiesse A.; Salas A.; Vega A.; Fernandez-Lorenzo J.R.; Barreiro J.; Carracedo A.;
Hum. Mutat. 27:214-214(2006)
Cited for: VARIANTS HHF1 TRP-74; ARG-111; SER-188; ARG-233; ASN-310; ARG-551; THR-719; PRO-1130; ARG-1147; LYS-1295 AND PRO-1450; VARIANTS SER-1369 AND ILE-1572;

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.