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UniProtKB/Swiss-Prot P12235: Variant p.Val289Met

ADP/ATP translocase 1
Gene: SLC25A4
Variant information

Variant position:  289
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Valine (V) to Methionine (M) at position 289 (V289M, p.Val289Met).
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

Variant description:  In PEOA2; inverted direction of ADP:ATP transport, with ATP entering the mitochondrial matrix.
Any additional useful information about the variant.

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

Sequence information

Variant position:  289
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  298
The length of the canonical sequence.

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                         AF--------------------------------FKGA----------------------------WSNVLRGMGGAFV-----LVLYDEI------------------------------------------------------KKYV------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------

Mouse                         AF----------------------------

Rat                           AF----------------------------

Bovine                        AF----------------------------

Rabbit                        AF----------------------------


Baker's yeast                 SL----------------------------

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.

Chain 2 – 298 ADP/ATP translocase 1
Transmembrane 274 – 291 Helical; Name=6
Repeat 212 – 297 Solcar 3
Modified residue 272 – 272 N6-succinyllysine

Literature citations

adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria.
Kawamata H.; Tiranti V.; Magrane J.; Chinopoulos C.; Manfredi G.;
Hum. Mol. Genet. 20:2964-2974(2011)

Role of adenine nucleotide translocator 1 in mtDNA maintenance.
Kaukonen J.; Juselius J.K.; Tiranti V.; Kyttala A.; Zeviani M.; Comi G.P.; Keranen J.; Peltonen L.; Suomalainen A.;
Science 289:782-785(2000)
Cited for: VARIANTS PEOA2 PRO-114 AND MET-289;

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
Agostino A.; Valletta L.; Chinnery P.F.; Ferrari G.; Carrara F.; Taylor R.W.; Schaefer A.M.; Turnbull D.M.; Tiranti V.; Zeviani M.;
Neurology 60:1354-1356(2003)
Cited for: VARIANT PEOA2 MET-289;

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.