Sequence information
Variant position: 114 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:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human KYKQLFLGGVDRHKQ-------FWRYFA ----------------GNLASG-----------GAAGATSLC-------FVYPL
Mouse KYKQIFLGGVDRHKQ-------FWRYFA -------------
Rat KYKQIFLGGVDRHKQ-------FWRYFA -------------
Bovine KYKQIFLGGVDRHKQ-------FWRYFA -------------
Rabbit KYKQIFLGGVDRHKQ-------FWRYFA -------------
Caenorhabditis elegans TQPSALSTGVHKNGQAQSLLDAFCRYQA HMNPGTDLTDMNH
Baker's yeast KIKSLLSYDRERDG--------YAKWFA -------------
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.
Type Positions Description
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; CATALYTIC 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.