UniProtKB/Swiss-Prot Q14654: Variant p.Lys23Glu

ATP-sensitive inward rectifier potassium channel 11
Gene: KCNJ11
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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 Lysine (K) to Glutamate (E) at position 23 (K23E, p.Lys23Glu). 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 large size and basic (K) to medium size and acidic (E) 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.

Variant rs5219 [ dbSNP | Ensembl ]

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.
Location on the sequence:

SRKGIIPEEYVLTRLAEDPA K PRYRARQRRARFVSKKGNCN 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                         SRKGIIPEEYVLTRLAEDPAKPRYRARQRRARFVSKKGNCN

Mouse                         SRKGIIPEEYVLTRLAEDPAEPRYRTRERRARFVSKKGNCN

Rat                           SRKGIIPEEYVLTRLAEDPTEPRYRTRERRARFVSKKGNCN

Rabbit                        SRKGIIPEEYVLTRLAEDPAEPRYRARERRARFVSKKGNCN

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

Literature citations
Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor.
Inagaki N.; Gonoi T.; Clement J.P. IV; Namba N.; Inazawa J.; Gonzalez G.; Aguilar-Bryan L.; Seino S.; Bryan J.;
Science 270:1166-1170(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLU-23; SER-148 AND ILE-337; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2); VARIANTS GLU-23 AND ILE-337; 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)
Cited for: VARIANTS NIDDM PRO-355 AND LYS-PRO-380 INS; VARIANTS GLU-23; VAL-270; ILE-337 AND CYS-385; 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; GLU-23; VAL-270 AND ILE-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 GLU-23 AND ILE-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 GLU-23; SER-148 AND ILE-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 GLU-23 AND ILE-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.