Sequence information
Variant position: 236 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:
IAQSVTAVAGLVSYPFDTVR
R RMMMQSGRKGADIMYTGTVD
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 IAQSVTAVA---GLVSYPFDTVR-----------------------------R RMMMQSGRKGADIM-----YTGTV-------------------------------------------------D
Mouse IAQSVTAVA---GLVSYPFDTVR------------------
Rat IAQSVTAVA---GLVSYPFDTVR------------------
Bovine IAQTVTAVA---GLVSYPFDTVR------------------
Rabbit IAQTVTAVA---GLVSYPFDTVR------------------
Caenorhabditis elegans GGQCLALSCDNKALVEQPEDCPRIEGRSVHQWEEWSSWSEC
Baker's yeast LGWVITMGA---STASYPLDTVR------------------
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
Topological domain
232 – 273
Mitochondrial matrix
Repeat
212 – 297
Solcar 3
Region
235 – 240
Important for transport activity
Motif
235 – 240
Nucleotide carrier signature motif
Binding site
235 – 235
ADP
Modified residue
245 – 245
N6-succinyllysine
Literature citations
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;
Two novel mutations in the SLC25A4 gene in a patient with mitochondrial myopathy.
Koerver-Keularts I.M.; de Visser M.; Bakker H.D.; Wanders R.J.; Vansenne F.; Scholte H.R.; Dorland L.; Nicolaes G.A.; Spaapen L.M.; Smeets H.J.; Hendrickx A.T.; van den Bosch B.J.;
JIMD Rep. 22:39-45(2015)
Cited for: VARIANT MTDPS12B PRO-236;
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.