Variant position: 25 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 104 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 VKVLQLFKTLHRTRQQVFKN DARALEAARIKINEEFKNNKS
Mouse AKVLQLFKTLHRTRQQVFKN DKRALEAARVKINEEFKKHKN
Rat AKVLQLFKTLHRTRQQVFKN DKRALEAARVKINEEFKKHKN
Bovine AKVLQLFKTLHRTRQQVFKN DARALEAARKKINEEFKCNKT
Xenopus laevis MKVLKLFRTLHRTRQCVFQN DHRALEAARQRINEEFKKNKR
Xenopus tropicalis MKVLKLFKTLHRTRQCVFQN DCRALEAARRRINEEFKKNKS
Zebrafish LKVLRVFKDLHRTRRDVFRD DNRALTAARVKINEEFKKNKN
Slime mold AKVLSSYLGLLRTEKKVFQN DKRALEHVINLTRVQFRDNKN
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 – 104 Complex III assembly factor LYRM7
A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.
Invernizzi F.; Tigano M.; Dallabona C.; Donnini C.; Ferrero I.; Cremonte M.; Ghezzi D.; Lamperti C.; Zeviani M.;
Hum. Mutat. 34:1619-1622(2013)
Cited for: VARIANT MC3DN8 ASN-25; CHARACTERIZATION OF VARIANT MC3DN8 ASN-25;
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