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UniProtKB/Swiss-Prot P05141: Variant p.Leu111Arg

ADP/ATP translocase 2
Gene: SLC25A5
Variant information Variant position: help 111 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 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: help 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: 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

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

Sequence information Variant position: help 111 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 298 The length of the canonical sequence.
Location on the sequence: help 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.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         FKDKYKQIFLGGVDKRTQ-----------------------------FWLYFAGNLASGGAAG-----------------------ATSLC-------FV

Mouse                         FKDKYKQIFLGGVDKRTQ-----------------------

Rat                           FKDKYKQIFLGGVDKRTQ-----------------------

Bovine                        FKDKYKQIFLGGVDKRTQ-----------------------


Baker's yeast                 FKDKIKAMF--GFKKEEG-----------------------

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.
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
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)
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.