Home  |  Contact

UniProtKB/Swiss-Prot P05141: Variant p.Leu111Arg

ADP/ATP translocase 2
Gene: SLC25A5
Chromosomal location: Xq24-q26
Variant information

Variant position:  111
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
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 Leucine (L) to Arginine (R) at position 111 (L111R, p.Leu111Arg).
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 medium size and hydrophobic (L) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

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



Sequence information

Variant position:  111
The position of the amino-acid change on the UniProtKB canonical protein sequence.

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

Location on the sequence:   FKDKYKQIFLGGVDKRTQFW  L YFAGNLASGGAAGATSLCFV
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.

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 – 298 ADP/ATP translocase 2
Chain 2 – 298 ADP/ATP translocase 2, N-terminally processed
Transmembrane 110 – 130 Helical; Name=3
Repeat 111 – 201 Solcar 2
Binding site 92 – 92 ADP
Modified residue 92 – 92 N6-malonyllysine
Modified residue 96 – 96 N6-malonyllysine
Modified residue 105 – 105 N6-acetyllysine; alternate
Modified residue 105 – 105 N6-succinyllysine; alternate


Literature citations

The human fibroblast adenine nucleotide translocator gene. Molecular cloning and sequence.
Ku D.-H.; Kagan J.; Chen S.-T.; Chang C.-D.; Baserga R.; Wurzel J.;
J. Biol. Chem. 265:16060-16063(1990)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ARG-111;

Molecular cloning of a cDNA for a human ADP/ATP carrier which is growth-regulated.
Battini R.; Ferrari S.; Kaczmarek L.; Calabretta B.; Chen S.T.; Baserga R.;
J. Biol. Chem. 262:4355-4358(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ARG-111;

Ordered shotgun sequencing of a 135 kb Xq25 YAC containing ANT2 and four possible genes, including three confirmed by EST matches.
Chen C.N.; Su Y.; Baybayan P.; Siruno A.; Nagaraja R.; Mazzarella R.; Schlessinger D.; Chen E.;
Nucleic Acids Res. 24:4034-4041(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ARG-111;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ARG-111;

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.