Variant position: 253 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 727 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 SKPYAFTARPWETRKTESID VMDAVGSNIVVSTRTGEVMRI
Gorilla SKPYAFTARPWETRKTESID VMDAVGSNIVVSTRTGEVMRI
Chimpanzee SKPYAFTARPWETRKTESID VMDAVGSNIVVSTRTGEVMRI
Mouse SKPYAFTARPWETRKTESID VMDAVGSNIVVSTRTGEVMRI
Rat SKPYAFTARPWETRKTESID VMDAVGSNIVVSTRTGEVMRI
Bovine SKPYAFTARPWETRKTESID VMDAVGSNIVVSTRTGEVMRI
Drosophila NKPYSFVARPWEIRKVSSID VLDAVGSNIVVSTRTNEVLRI
Slime mold SAVYAYKGRPWELKNIKGID IFDTLLTPINYQVKGGEIFRI
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
24 – 727 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
245 – 301 4Fe-4S Mo/W bis-MGD-type
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.
Shamseldin H.E.; Alshammari M.; Al-Sheddi T.; Salih M.A.; Alkhalidi H.; Kentab A.; Repetto G.M.; Hashem M.; Alkuraya F.S.;
J. Med. Genet. 49:234-241(2012)
Cited for: VARIANT GLY-253;
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