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UniProtKB/Swiss-Prot P00395: Variant p.Ser142Phe

Cytochrome c oxidase subunit 1
Gene: MT-CO1
Chromosomal location: M
Variant information

Variant position:  142
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 Serine (S) to Phenylalanine (F) at position 142 (S142F, p.Ser142Phe).
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 small size and polar (S) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. {ECO:0000269|PubMed:12140182, ECO:0000269|PubMed:16284789}. 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 MT-C4D; significant decrease in enzyme activity.
Any additional useful information about the variant.

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



Sequence information

Variant position:  142
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  513
The length of the canonical sequence.

Location on the sequence:   AGTGWTVYPPLAGNYSHPGA  S VDLTIFSLHLAGVSSILGAI
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                         AGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGVSSILGAI

                              AGTGWTVYPPLAGNLAHAGASVDLTIFSLHLAGVSSILGAI

Chimpanzee                    AGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGISSILGAI

Mouse                         AGTGWTVYPPLAGNLAHAGASVDLTIFSLHLAGVSSILGAI

Rat                           AGTGWTVYPPLAGNLAHAGASVDLTIFSLHLAGVSSILGAI

Pig                           AGTGWTVYPPLAGNLAHAGASVDLTIFSLHLAGVSSILGAI

Bovine                        AGTGWTVYPPLAGNLAHAGASVDLTIFSLHLAGVSSILGAI

Rabbit                        AGTGWTVYPPLAGNLAHAGASVDLTIFSLHLAGVSSILGAI

Goat                          AGTGWTVYPPLAGNLAHAGASVDLTIFSLHLAGISSILGAI

Sheep                         AGTGWTVYPPLAGNLAHAGASVDLTIFSLHLAGVSSILGAI

Cat                           AGTGWTVYPPLAGNLAHAGASVDLTIFSLHLAGVSSILGAI

Horse                         AGTGWTVYPPLAGNLAHAGASVDLTIFSLHLAGVSSILGAI

Chicken                       AGTGWTVYPPLAGNLAHAGASVDLAIFH-YLAGVSSILGAI

Xenopus laevis                AGTGWTVYPPLAGNLAHAGASVDLTIFSLHLAGISSILGAI

Zebrafish                     AGTGWTVYPPLAGNLAHAGASVDLTIFSLHLAGVSSILGAI

Caenorhabditis elegans        CGTSWTVYPPLSTM-GHPGSSVDLAIFSLHAAGLSSILGGI

Drosophila                    AGTGWTVYPPLSAGIAHGGASVDLAIFSLHLAGISSILGAV

Slime mold                    VGTGWTVYPPLSTMEYHPGHAVDVGILSLHIAGASSLLGAI

Baker's yeast                 AGTGWTVYPPLSSIQAHSGPSVDLAIFALHLTSISSLLGAI

Fission yeast                 PGGGWTVYPPLSSITSHSGPAIDLAILSLQLTGISSTLGSV

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 – 513 Cytochrome c oxidase subunit 1
Topological domain 123 – 146 Mitochondrial intermembrane


Literature citations

Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient.
Lucioli S.; Hoffmeier K.; Carrozzo R.; Tessa A.; Ludwig B.; Santorelli F.M.;
Neurogenetics 7:51-57(2006)
Cited for: VARIANT MT-C4D PHE-142; CHARACTERIZATION OF VARIANT MT-C4D PHE-142;

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.