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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96KJ9: Variant p.Glu138Lys

Cytochrome c oxidase subunit 4 isoform 2, mitochondrial
Gene: COX4I2
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Variant information Variant position: help 138 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 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: help 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: help 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: help 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: help Links to websites of interest for the variant.


Sequence information Variant position: help 138 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 171 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LVIWWQRVYVFPPKPITLTDERKAQQLQRMLDMKVNPVQGL

Mouse                         LVIWWQRVYVFPKKVVTLTEERKAQQLQRLLDMKSNPIQGL

Rat                           LVIWWQRVYVFPKKVVTLTEERKAQQLQRLLDMKSNPIQGL
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 29 – 171 Cytochrome c oxidase subunit 4 isoform 2, mitochondrial
Topological domain 127 – 171 Mitochondrial intermembrane



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.