Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P03923: Variant p.Met63Val

NADH-ubiquinone oxidoreductase chain 6
Gene: MT-ND6
Feedback?
Variant information Variant position: help 63 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 Methionine (M) to Valine (V) at position 63 (M63V, p.Met63Val). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 LS; decrease in enzyme activity and impaired assembly of complex I. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 63 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 174 The length of the canonical sequence.
Location on the sequence: help ILNFGGGYMGLMVFLIYLGG M MVVFGYTTAMAIEEYPEAWG 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                         ILNFGGGY-MGLMVFLIYLGGMMVVFGYTTAMAIEEYPE-----AWG

Gorilla                       ILNCGGGY-MGLMVFLIYLGGMMVVFGYTTAMAIGEYPE--

                              VLNFGGSF-LGLMVFLIYLGGMLVVFGYTTAMATEQYPE--

Chimpanzee                    ILNYGGGY-MGLMVFLIYLGGMMVVFGYTTAMAIEEYPE--

Mouse                         VLGFGGSF-LGLMVFLIYLGGMLVVFGYTTAMATEEYPE--

Rat                           VLGFGGSF-LGLMVFLIYLGGMLVVFGYTTAMATEEYPE--

Pig                           VLNFGGSF-LGLMVFLIYLGGMLVVFGYTTAMATEMYPE--

Bovine                        VLNFGGSF-LGLMVFLIYLGGMMVVFGYTTAMATEQYPE--

Rabbit                        VLSFGGSF-LGLMMFLIYLGGMLVVFGYTTAMATEEYPE--

Sheep                         VLNFGGSF-LGLMVFLIYLGGMMVVFGYTTAMATEQYPE--

Cat                           VLNFGGSF-LGLMVFLIYLGGMLVVFGYTTAMATEPYPE--

Horse                         IMNFGGSF-LGLMVFLIYLGGMLVVFGYTTAMATEQYPE--

Chicken                       LVSLGVSF-VSLALFLVYLGGMLVVFVYSVSLAADPYPE--

Xenopus laevis                IVSFGSSF-LSIVLFLIYLGGMLVVFAYSAARA-KPYPE--

Zebrafish                     LVSYGGSF-LSLILFLIYLGGMLVVFAYSAALAAEPFPE--

Caenorhabditis elegans        VISMSMHIWFSYFICLLFLSGIFVILVYFSSL---------

Drosophila                    TGLMTKSFWYSYILFLIFLGGMLVLFIYVTSLASNEMFNLS

Slime mold                    LLTVEMEF-LACIYILVNVGAIAVLFLFIVMMININIVE--

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 1 – 174 NADH-ubiquinone oxidoreductase chain 6
Transmembrane 47 – 67 Helical



Literature citations
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
Ugalde C.; Triepels R.H.; Coenen M.J.; van den Heuvel L.P.; Smeets R.; Uusimaa J.; Briones P.; Campistol J.; Majamaa K.; Smeitink J.A.; Nijtmans L.G.;
Ann. Neurol. 54:665-669(2003)
Cited for: VARIANT LS VAL-63; CHARACTERIZATION OF LS VAL-63; FUNCTION; CATALYTIC ACTIVITY;
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.