Variant position: 4 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 98 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 MMC GAPSATQPATAETQHIADQVR
Gorilla MMC GAPSATQPATAETQHIADQVR
Chimpanzee MMC GAPSATQPATAETQHIADQVR
Mouse MMC GAPSATMPATAETQEVADQVK
Rat MMC GAPSATMPATTETQEIADKVK
Pig MMC GAPSATQPATAEIQAIADKVK
Bovine MMC GGTSATQPATAETQAIADKVK
Sheep MMC GAPSATQPATAETQAIADKVK
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 – 98 Cystatin-B
4 – 4 Reactive site
1 – 1 N-acetylmethionine
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1).
Lalioti M.D.; Mirotsou M.; Buresi C.; Peitsch M.C.; Rossier C.; Ouazzani R.; Baldy-Moulinier M.; Bottani A.; Malafosse A.; Antonarakis S.E.;
Am. J. Hum. Genet. 60:342-351(1997)
Cited for: VARIANT EPM1 ARG-4;
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