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UniProtKB/Swiss-Prot P03886: Variant p.Met31Val

NADH-ubiquinone oxidoreductase chain 1
Gene: MT-ND1
Variant information

Variant position:  31
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 Methionine (M) to Valine (V) at position 31 (M31V, p.Met31Val).
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:  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:  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

Involvement in disease:  Alzheimer disease mitochondrial (AD-MT) [MIM:502500]: Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. {ECO:0000269|PubMed:8104867}. Note=Disease susceptibility may be associated with variations 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 AD-MT; may be associated with disease susceptibility.
Any additional useful information about the variant.

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



Sequence information

Variant position:  31
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  318
The length of the canonical sequence.

Location on the sequence:   VPILIAMAFLMLTERKILGY  M QLRKGPNVVGPYGLLQPFAD
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                         VPILIAMAFLMLTERKILGYMQLRKGPNVVGPYGLLQPFAD

Gorilla                       VPILIAMAFLMLTERKILGYMQLRKGPNVVGPYGLLQPFAD

                              IPILLAVAFLTLVERKVLGYMQLRKGPNIVGPYGLLQPIAD

Chimpanzee                    VPILIAMAFLMLTERKILGYMQLRKGPNIVGPYGLLQPFAD

Mouse                         VPILIAMAFLTLVERKILGYMQLRKGPNIVGPYGILQPFAD

Rat                           IPILIAMAFLTLVERKILGYMQLRKGPNIVGPYGILQPFAD

Pig                           IPILLAVAFLTLVERKVLGYMQLRKGPNVVGPYGLLQPIAD

Bovine                        IPILLAVAFLTLVERKVLGYMQLRKGPNVVGPYGLLQPIAD

Rabbit                        LPVLLAMAFLTLVERKILGYMQLRKGPNIVGPYGLLQPIAD

Sheep                         IPILLAVAFLTLVERKVLGYMQFRKGPNVVGPYGLLQPIAD

Cat                           IPILLAVAFLTLVERKVLGYMQLRKGPNVVGPYGLLQPIAD

Horse                         VPILLAVAFLTLVERKVLGYMQLRKGPNIVGPYGLLQPIAD

Chicken                       LPILIAVAFLTLVERKILSYMQARKGPNIVGPFGLLQPVAD

Xenopus laevis                IPILLAVAFLTLIERKVLGYMQHRKGPNIVGPTGLIQPIAD

Zebrafish                     VPVLIAVAFLTLVERKVLGYMQLRKGPNVMGPRGLLQSVAD

Caenorhabditis elegans        IFIVQSIAFITLYERHLLGSSQNRLGPTKVTFMGLAQALLD

Drosophila                    ICVLVSVAFLTLLERKVLGYIQIRKGPNKVGLMGIPQPFCD

Slime mold                    IGLLIGVAFATLLERKVMAAMQKRRGPNVVGFVGLLQPLAD

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 – 318 NADH-ubiquinone oxidoreductase chain 1


Literature citations

Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients.
Shoffner J.M.; Brown M.D.; Torroni A.; Lott M.T.; Cabell M.F.; Mirra S.S.; Beal M.F.; Yang C.-C.; Gearing M.; Salvo R.; Watts R.L.; Juncos J.L.; Hansen L.A.; Crain B.J.; Fayad M.; Reckord C.L.; Wallace D.C.;
Genomics 17:171-184(1993)
Cited for: POSSIBLE INVOLVEMENT IN AD-MT; VARIANT AD-MT VAL-31;

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.