Variant position: 190 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 779 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 AGVEAQTLTVWRQADKHNIP RICFLNKMDKTGASFKYAVES
Mouse AGVEAQTLTVWRQADKHKIP RICFLNKMDKTGASFNYAVES
Rat AGVEAQTLTVWRQADKHKIP RICFLNKMDKTGASFNYAVES
Bovine AGVEAQTLTVWRQADKHKVP RICFLNKMDKIGASFNYAVES
Zebrafish AGVEAQTMTVWRQAEKHQIP CVCFLNKMDKPAASLRYSLDS
Drosophila AGVEAQTVTVWSQADKHKLP RLIFVNKMDRPDADFEKCVSD
Baker's yeast AGVEAQTEKVWKQSKSK--P KICFINKMDRMGASFNHTVND
Fission yeast AGVEAQTKVVWKQATKRGIP KVIFVNKMDRVGSSLGSTIRS
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
1 – 779 Ribosome-releasing factor 2, mitochondrial
68 – 353 tr-type G
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.
Glasgow R.I.C.; Thompson K.; Barbosa I.A.; He L.; Alston C.L.; Deshpande C.; Simpson M.A.; Morris A.A.M.; Neu A.; Loebel U.; Hall J.; Prokisch H.; Haack T.B.; Hempel M.; McFarland R.; Taylor R.W.;
Cited for: VARIANTS COXPD39 SER-92 AND GLN-190; INVOLVEMENT IN COXPD39;
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