UniProtKB/Swiss-Prot Q96KJ9: Variant p.Glu138Lys

Cytochrome c oxidase subunit 4 isoform 2, mitochondrial
Gene: COX4I2
Chromosomal location: 20q11.1
Variant information

Variant position:  138
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Glutamate (E) to Lysine (K) at position 138 (E138K, p.Glu138Lys).
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

Involvement in disease:  Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714]: Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth. {ECO:0000269|PubMed:19268275}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In EPIDACH; expression in patient fibroblasts is reduced to 25% of control values in normoxic conditions; the mutant protein shows an impaired response to hypoxia.
Any additional useful information about the variant.

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



Sequence information

Variant position:  138
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  171
The length of the canonical sequence.

Location on the sequence:   LVIWWQRVYVFPPKPITLTD  E RKAQQLQRMLDMKVNPVQGL
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                         LVIWWQRVYVFPPKPITLTDERKAQQLQRMLDMKVNPVQGL

Mouse                         LVIWWQRVYVFPKKVVTLTEERKAQQLQRLLDMKSNPIQGL

Rat                           LVIWWQRVYVFPKKVVTLTEERKAQQLQRLLDMKSNPIQGL



Literature citations

Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene.
Shteyer E.; Saada A.; Shaag A.; Al-Hijawi F.A.; Kidess R.; Revel-Vilk S.; Elpeleg O.;
Am. J. Hum. Genet. 84:412-417(2009)
Cited for: VARIANT EPIDACH LYS-138; CHARACTERIZATION OF VARIANT EPIDACH LYS-138;

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.