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UniProtKB/Swiss-Prot Q14654: Variant p.Phe333Ile

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

Variant position:  333
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Phenylalanine (F) to Isoleucine (I) at position 333 (F333I, p.Phe333Ile).
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 aromatic (F) to medium size and hydrophobic (I)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  In PNDM2; alters gating characteristics; decreases sensitivity to inhibition by ATP and increases intrinsic open probability.
Any additional useful information about the variant.

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



Sequence information

Variant position:  333
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:   QRFVPIVAEEDGRYSVDYSK  F GNTIKVPTPLCTARQLDEDH
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                         QRFVPIVAEEDGRYSVDYSKFGNTIKVPTPLCTARQLDEDH

Mouse                         QRFVPIVAEEDGRYSVDYSKFGNTIKVPTPLCTARQLDEDR

Rat                           QRFVPIVAEEDGRYSVDYSKFGNTVKVPTPLCTARQLDEDR

Rabbit                        QRFVPIVAEEDGRYSVDYSKFGNTVKVPTPLCTARQLDEDR

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 – 390 ATP-sensitive inward rectifier potassium channel 11
Topological domain 167 – 390 Cytoplasmic
Modified residue 341 – 341 Phosphothreonine; by MAPK1


Literature citations

A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.
Tammaro P.; Ashcroft F.M.;
J. Physiol. (Lond.) 584:743-753(2007)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT PNDM2 ILE-333; INTERACTION WITH ABCC9;

Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
Sagen J.V.; Raeder H.; Hathout E.; Shehadeh N.; Gudmundsson K.; Baevre H.; Abuelo D.; Phornphutkul C.; Molnes J.; Bell G.I.; Gloyn A.L.; Hattersley A.T.; Molven A.; Soevik O.; Njoelstad P.R.;
Diabetes 53:2713-2718(2004)
Cited for: VARIANTS PNDM2 VAL-35; MET-59; HIS-201; CYS-330 AND ILE-333;

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.