Variant position: 360 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 821 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 GLDEVPFKGEKVKLVRLRNP WGQVEWNGSWSDRWKDWSFVD
Mouse GLEEALFKGEKVKLVRLRNP WGQVEWNGSWSDGWKDWSFVD
Rat GLEEALFKGEKVKLVRLRNP WGQVEWNGSWSDGWKDWSFVD
Pig GLEEALFKGEKVKLVRLRNP WGQVEWNGSWSDSWKDWSFVD
Bovine GLEEALYKGEKVKLVRLRNP WGQVEWNGSWSDSWKDWSYVD
Sheep GLEEALYKGEKVKLVRLRNP WGQVEWNGSWSDSWKDWSYVD
Chicken AVEETTYKGEKMRLVRLRNP WGQVEWNGPWSDKSEEWNFID
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 – 821 Calpain-3
74 – 417 Calpain catalytic
358 – 358
1 – 665 Missing. In isoform V.
1 – 512 Missing. In isoform IV.
Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families.
Kawai H.; Akaike M.; Kunishige M.; Inui T.; Adachi K.; Kimura C.; Kawajiri M.; Nishida Y.; Endo I.; Kashiwagi S.; Nishino H.; Fujiwara T.; Okuno S.; Roudaut C.; Richard I.; Beckmann J.S.; Miyoshi K.; Matsumoto T.;
Muscle Nerve 21:1493-1501(1998)
Cited for: VARIANT LGMDR1 CYS-360;
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