Variant position: 98 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 VIRYFPTQALNFAFKDKYKQ LFLGGVDRHKQ-FWRYFAGNLA
Mouse VIRYFPTQALNFAFKDKYKQ IFLGGVDRHKQ-FWRYFAGNL
Rat VIRYFPTQALNFAFKDKYKQ IFLGGVDRHKQ-FWRYFAGNL
Bovine VIRYFPTQALNFAFKDKYKQ IFLGGVDRHKQ-FWRYFAGNL
Rabbit VIRYFPTQALNFAFKDKYKQ IFLGGVDRHKQ-FWRYFAGNL
Baker's yeast VLRYFPTQALNFAFKDKIKS LL--SYDRERDGYAKWFAGNL
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
75 – 100 Helical; Name=2
6 – 98 Solcar 1
80 – 80 Nucleotide
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.
Napoli L.; Bordoni A.; Zeviani M.; Hadjigeorgiou G.M.; Sciacco M.; Tiranti V.; Terentiou A.; Moggio M.; Papadimitriou A.; Scarlato G.; Comi G.P.;
Cited for: VARIANT PEOA2 PRO-98;
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;
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