Variant position: 104 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:
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 TQALNFAFKDKYKQLFLGGV DRHKQ-FWRYFAGNLASGGAAG
Mouse TQALNFAFKDKYKQIFLGGV DRHKQ-FWRYFAGNLASGGAA
Rat TQALNFAFKDKYKQIFLGGV DRHKQ-FWRYFAGNLASGGAA
Bovine TQALNFAFKDKYKQIFLGGV DRHKQ-FWRYFAGNLASGGAA
Rabbit TQALNFAFKDKYKQIFLGGV DRHKQ-FWRYFAGNLASGGAA
Baker's yeast TQALNFAFKDKIKSLL--SY DRERDGYAKWFAGNLFSGGAA
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
2 – 298 ADP/ATP translocase 1
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;
A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.
Komaki H.; Fukazawa T.; Houzen H.; Yoshida K.; Nonaka I.; Goto Y.;
Ann. Neurol. 51:645-648(2002)
Cited for: VARIANT PEOA2 GLY-104;
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