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UniProtKB/Swiss-Prot Q14654: Variant p.Glu23Lys

ATP-sensitive inward rectifier potassium channel 11
Gene: KCNJ11
Variant information

Variant position:  23
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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:  From Glutamate (E) to Lysine (K) at position 23 (E23K, p.Glu23Lys).
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 medium size and acidic (E) to large size and basic (K)
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

Variant description:  Linked to V-337.
Any additional useful information about the variant.

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

Sequence information

Variant position:  23
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  390
The length of the canonical 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.





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.

Chain 1 – 390 ATP-sensitive inward rectifier potassium channel 11
Topological domain 1 – 68 Cytoplasmic
Alternative sequence 1 – 87 Missing. In isoform 2.

Literature citations

Human chromosome 11 DNA sequence and analysis including novel gene identification.
Taylor T.D.; Noguchi H.; Totoki Y.; Toyoda A.; Kuroki Y.; Dewar K.; Lloyd C.; Itoh T.; Takeda T.; Kim D.-W.; She X.; Barlow K.F.; Bloom T.; Bruford E.; Chang J.L.; Cuomo C.A.; Eichler E.; FitzGerald M.G.; Jaffe D.B.; LaButti K.; Nicol R.; Park H.-S.; Seaman C.; Sougnez C.; Yang X.; Zimmer A.R.; Zody M.C.; Birren B.W.; Nusbaum C.; Fujiyama A.; Hattori M.; Rogers J.; Lander E.S.; Sakaki Y.;
Nature 440:497-500(2006)

Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in white Caucasian subjects or evidence of abnormal function when expressed in vitro.
Sakura H.; Wat N.; Horton V.; Millns H.; Turner R.C.; Ashcroft F.M.;
Diabetologia 39:1233-1236(1996)

Sequence variants in the pancreatic islet beta-cell inwardly rectifying K+ channel Kir6.2 (Bir) gene: identification and lack of role in Caucasian patients with NIDDM.
Inoue H.; Ferrer J.; Warren-Perry M.; Zhang Y.; Millns H.; Turner R.C.; Elbein S.C.; Hampe C.L.; Suarez B.K.; Inagaki N.; Seino S.; Permutt M.A.;
Diabetes 46:502-507(1997)
Cited for: VARIANTS LYS-10; LYS-23; VAL-270 AND VAL-337;

Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.
Halushka M.K.; Fan J.-B.; Bentley K.; Hsie L.; Shen N.; Weder A.; Cooper R.; Lipshutz R.; Chakravarti A.;
Nat. Genet. 22:239-247(1999)
Cited for: VARIANTS LYS-23 AND VAL-337;

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: VARIANT HHF2 HIS-34; VARIANTS LYS-23; SER-148 AND VAL-337;

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 LYS-23 AND VAL-337;

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.