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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12235: Variant p.Ala114Pro

ADP/ATP translocase 1
Gene: SLC25A4
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Variant information Variant position: help 114 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Alanine (A) to Proline (P) at position 114 (A114P, p.Ala114Pro). 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 small size and hydrophobic (A) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In PEOA2; decreased function in ADP transport; inverted direction of ADP:ATP transport, with ATP entering the mitochondrial matrix. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 114 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 KYKQLFLGGVDRHKQFWRYF A GNLASGGAAGATSLCFVYPL 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                         KYKQLFLGGVDRHK-QF------------------------------WRYFAGNLASG----------------------------------------------------GAAGATSLC-------FVYPL

Mouse                         KYKQIFLGGVDRHK-QF------------------------

Rat                           KYKQIFLGGVDRHK-QF------------------------

Bovine                        KYKQIFLGGVDRHK-QF------------------------

Rabbit                        KYKQIFLGGVDRHK-QF------------------------

Caenorhabditis elegans        HFEREYIQDAEQHLLEFSLALINNVHVLYQQDTLTPNLDIV

Baker's yeast                 KIKSLL--SYDRERDGY------------------------
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 2 – 298 ADP/ATP translocase 1
Transmembrane 110 – 130 Helical; Name=3
Repeat 111 – 201 Solcar 2



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)
Cited for: FUNCTION; TRANSPORTER ACTIVITY; ACTIVITY REGULATION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS PEOA2 PRO-114 AND MET-289; Recurrent de novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number.
Thompson K.; Majd H.; Dallabona C.; Reinson K.; King M.S.; Alston C.L.; He L.; Lodi T.; Jones S.A.; Fattal-Valevski A.; Fraenkel N.D.; Saada A.; Haham A.; Isohanni P.; Vara R.; Barbosa I.A.; Simpson M.A.; Deshpande C.; Puusepp S.; Bonnen P.E.; Rodenburg R.J.; Suomalainen A.; Ounap K.; Elpeleg O.; Ferrero I.; McFarland R.; Kunji E.R.; Taylor R.W.;
Am. J. Hum. Genet. 99:860-876(2016)
Cited for: FUNCTION; INVOLVEMENT IN MTDPS12A; VARIANTS MTDPS12A HIS-80 AND GLY-235; CHARACTERIZATION OF VARIANTS MTDPS12A HIS-80 AND GLY-235; CHARACTERIZATION OF VARIANTS PEOA2 ASP-90; PRO-98; GLY-104 AND PRO-114; CHARACTERIZATION OF VARIANTS MTDPS12B ASP-123 AND PRO-236; 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; Novel Twinkle (PEO1) gene mutations in Mendelian progressive external ophthalmoplegia.
Virgilio R.; Ronchi D.; Hadjigeorgiou G.M.; Bordoni A.; Saladino F.; Moggio M.; Adobbati L.; Kafetsouli D.; Tsironi E.; Previtali S.; Papadimitriou A.; Bresolin N.; Comi G.P.;
J. Neurol. 255:1384-1391(2008)
Cited for: VARIANTS PEOA2 PRO-98 AND PRO-114;
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.