Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14654: Variant p.Arg201Cys

ATP-sensitive inward rectifier potassium channel 11
Gene: KCNJ11
Feedback?
Variant information Variant position: help 201 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 201 (R201C, p.Arg201Cys). 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 PNDM2; with neurologic features; produces smaller current and less change in ATP sensitivity than mutations associated with severe disease R-52 and G-59. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 201 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 390 The length of the canonical sequence.
Location on the sequence: help LIFSKHAVIALRHGRLCFML R VGDLRKSMIISATIHMQVVR 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                         LIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVR

Mouse                         LIFSKHAVITLRHGRLCFMLRVGDLRKSMIISATIHMQVVR

Rat                           LIFSKHAVITLRHGRLCFMLRVGDLRKSMIISATIHMQVVR

Rabbit                        LIFSKHAVIALRQGRLCFMLRVGDLRKSMIISATIHMQVVR
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 – 390 ATP-sensitive inward rectifier potassium channel 11
Topological domain 167 – 390 Cytoplasmic
Beta strand 195 – 204



Literature citations
Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.
Vaxillaire M.; Populaire C.; Busiah K.; Cave H.; Gloyn A.L.; Hattersley A.T.; Czernichow P.; Froguel P.; Polak M.;
Diabetes 53:2719-2722(2004)
Cited for: VARIANTS PNDM2 LEU-35; MET-59; CYS-201; HIS-201; LYS-322 AND CYS-330; Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.
Gloyn A.L.; Cummings E.A.; Edghill E.L.; Harries L.W.; Scott R.; Costa T.; Temple I.K.; Hattersley A.T.; Ellard S.;
J. Clin. Endocrinol. Metab. 89:3932-3935(2004)
Cited for: VARIANT PNDM2 CYS-201; Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
Gloyn A.L.; Pearson E.R.; Antcliff J.F.; Proks P.; Bruining G.J.; Slingerland A.S.; Howard N.; Srinivasan S.; Silva J.M.C.L.; Molnes J.; Edghill E.L.; Frayling T.M.; Temple I.K.; Mackay D.; Shield J.P.H.; Sumnik Z.; van Rhijn A.; Wales J.K.H.; Clark P.; Gorman S.; Aisenberg J.; Ellard S.; Njoelstad P.R.; Ashcroft F.M.; Hattersley A.T.;
N. Engl. J. Med. 350:1838-1849(2004)
Cited for: VARIANTS PNDM2 ARG-52; GLY-59; MET-59; HIS-201; CYS-201 AND LEU-296; CHARACTERIZATION OF VARIANT PNDM2 HIS-201; Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
Proks P.; Antcliff J.F.; Lippiat J.; Gloyn A.L.; Hattersley A.T.; Ashcroft F.M.;
Proc. Natl. Acad. Sci. U.S.A. 101:17539-17544(2004)
Cited for: CHARACTERIZATION OF VARIANTS PNDM2 ARG-52; GLY-59 AND CYS-201; KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
Massa O.; Iafusco D.; D'Amato E.; Gloyn A.L.; Hattersley A.T.; Pasquino B.; Tonini G.; Dammacco F.; Zanette G.; Meschi F.; Porzio O.; Bottazzo G.; Crino A.; Lorini R.; Cerutti F.; Vanelli M.; Barbetti F.;
Hum. Mutat. 25:22-27(2005)
Cited for: VARIANTS PNDM2 PRO-50; MET-59; ARG-170; ASN-170 AND CYS-201; Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.
Flanagan S.E.; Edghill E.L.; Gloyn A.L.; Ellard S.; Hattersley A.T.;
Diabetologia 49:1190-1197(2006)
Cited for: VARIANTS PNDM2 TYR-46; GLN-50; ARG-52; ASP-53; GLY-59; MET-59; PRO-164; TYR-166; THR-170; CYS-201; HIS-201; LEU-201; LEU-296 AND SER-330;
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.