Variant position: 12 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 51 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 MVAYWRQAGLS YIRYSQICAKAVRDALKTEFK
Mouse MVAYWRQAGLS YIRFSQICAKAVRDALKTEFK
Rat MVAYWRQAGLS YIRFSQICAKAVRDALKTEFK
Bovine MVAYWRQAGLS YIRYSQICAKAVRDALKTEFK
Caenorhabditis elegans -MVAWRAAGLN YVRYSQIAAQVVRQCTKG---
Slime mold AGQYWRAAGIT YLQYANICGTHVRNCLKEPFR
Baker's yeast -MSAWRKAGIS YAAYLNVAAQAIRSSLKTELQ
Fission yeast MAFAWKK-NFS YSKYASICSQTVRQALKPEIK
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 – 51 ATP synthase subunit epsilon, mitochondrial
21 – 21 N6-acetyllysine; alternate
21 – 21 N6-succinyllysine; alternate
32 – 32 N6-acetyllysine; alternate
32 – 32 N6-succinyllysine; alternate
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.
Mayr J.A.; Havlickova V.; Zimmermann F.; Magler I.; Kaplanova V.; Jesina P.; Pecinova A.; Nuskova H.; Koch J.; Sperl W.; Houstek J.;
Hum. Mol. Genet. 19:3430-3439(2010)
Cited for: VARIANT MC5DN3 CYS-12;
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