UniProtKB/Swiss-Prot P00395 : Variant p.Gly125Asp
Cytochrome c oxidase subunit 1
Gene: MT-CO1
Feedback ?
Variant information
Variant position:
125
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
LP/P [Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]
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 Glycine (G) to Aspartate (D) at position 125 (G125D, p.Gly125Asp).
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 glycine (G) to medium size and acidic (D)
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
Variant description:
In CRC; displays steady-state catalytic activity linked to proton pumping that is approximately 34% of wild-type; an intrinsic proton leak is find in the enzyme, which will lead to decreased overall energy-conversion efficiency of the respiratory chain, perturbing transport processes such as protein, ion and metabolite trafficking.
Any additional useful information about the variant.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
125
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:
LPPSLLLLLASAMVEAGAGT
G WTVYPPLAGNYSHPGASVDL
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 LPPSLLLLLASAMVEAGAGTG WTVYPPLAGNYSHPGASVDL
LPPSFLLLLASSMVEAGAGTG WTVYPPLAGNLAHAGASVDL
Chimpanzee LPPSLLLLLASAMVEAGAGTG WTVYPPLAGNYSHPGASVDL
Mouse LPPSFLLLLASSMVEAGAGTG WTVYPPLAGNLAHAGASVDL
Rat LPPSFLLLLASSMVEAGAGTG WTVYPPLAGNLAHAGASVDL
Pig LPPSFLLLLASSMVEAGAGTG WTVYPPLAGNLAHAGASVDL
Bovine LPPSFLLLLASSMVEAGAGTG WTVYPPLAGNLAHAGASVDL
Rabbit LPPSFLLLLASSMVEAGAGTG WTVYPPLAGNLAHAGASVDL
Goat LPPSFLLLLASSMVEAGAGTG WTVYPPLAGNLAHAGASVDL
Sheep LPPSFLLLLASSMVEAGAGTG WTVYPPLAGNLAHAGASVDL
Cat LPPSFLLLLASSMVEAGAGTG WTVYPPLAGNLAHAGASVDL
Horse LPPSFLLLLASSMIEAGAGTG WTVYPPLAGNLAHAGASVDL
Chicken LPPSFLLLLASSTVEAGAGTG WTVYPPLAGNLAHAGASVDL
Xenopus laevis LPPSFLLLLASSGVEAGAGTG WTVYPPLAGNLAHAGASVDL
Zebrafish LPPSFLLLLASSGVEAGAGTG WTVYPPLAGNLAHAGASVDL
Caenorhabditis elegans LPTSMLLILDACFVDMGCGTS WTVYPPLS-TMGHPGSSVDL
Drosophila LPPALSLLLVSSMVENGAGTG WTVYPPLSAGIAHGGASVDL
Slime mold IIVSFFLLLTSSCVGIGVGTG WTVYPPLSTMEYHPGHAVDV
Baker's yeast LPMGLVCLVTSTLVESGAGTG WTVYPPLSSIQAHSGPSVDL
Fission yeast LPPALMLLLISALTEEGPGGG WTVYPPLSSITSHSGPAIDL
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 – 513
Cytochrome c oxidase subunit 1
Topological domain
118 – 140
Mitochondrial intermembrane
Literature citations
Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.
Greaves L.C.; Preston S.L.; Tadrous P.J.; Taylor R.W.; Barron M.J.; Oukrif D.; Leedham S.J.; Deheragoda M.; Sasieni P.; Novelli M.R.; Jankowski J.A.Z.; Turnbull D.M.; Wright N.A.; McDonald S.A.C.;
Proc. Natl. Acad. Sci. U.S.A. 103:714-719(2006)
Cited for: VARIANTS CRC ASP-125 AND PRO-458;
A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase.
Namslauer I.; Brzezinski P.;
Proc. Natl. Acad. Sci. U.S.A. 106:3402-3407(2009)
Cited for: CHARACTERIZATION OF VARIANTS CRC ASP-125 AND PRO-458;
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.