Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P39210: Variant p.Val66Glu

Protein Mpv17
Gene: MPV17
Feedback?
Variant information Variant position: help 66 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Valine (V) to Glutamate (E) at position 66 (V66E, p.Val66Glu). 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 hydrophobic (V) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

Variant description: help In MTDPS6; uncertain significance. Any additional useful information about the variant.


Sequence information Variant position: help 66 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 176 The length of the canonical sequence.
Location on the sequence: help HQRGRTLTMVSLGCGFVGPV V GGWYKVLDRFIPGTTKVDAL 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                         HQRGRTLTMVSLGCGFVGPVVGGWYKVLDRFIPGTTKV--DAL

Mouse                         HQAGRTLTMVSLGCGFVGPVVGGWYKVLDHLIPGTTKV--H

Rat                           HQTGRTLTMASLGCGFVGPVVGGWYRVLDHLIPGTTKV--N

Bovine                        HQAGRTLTMASLGCGFVGPVVGGWYRVLDRLIPGTTKV--D

Xenopus laevis                HSIERTVKMMGIGFCFVGPVVGGWYKILDRIIPGSGKP--V

Zebrafish                     HNARRTAKMMSIGFFFVGPVVGGWYKVLDKLVTGGTKS--A

Caenorhabditis elegans        WDRWRTARFSFLSSCFMAPSLFIWFRLLEKVKGNNKSL--L

Drosophila                    WDAGRTLRFGIVGLVFVGPTLRRWYHFLESRVPKTYSPMRR

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 – 176 Protein Mpv17
Transmembrane 53 – 73 Helical
Mutagenesis 80 – 80 T -> A. Does not affect gating properties of the channel.



Literature citations
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.
Kim J.; Kang E.; Kim Y.; Kim J.M.; Lee B.H.; Murayama K.; Kim G.H.; Choi I.H.; Kim K.M.; Yoo H.W.;
Mol. Genet. Metab. Rep. 8:74-76(2016)
Cited for: VARIANTS MTDPS6 GLU-66; ARG-94 AND LEU-98;
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.