Sequence information
Variant position: 292 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 842 The length of the canonical sequence.
Location on the sequence:
LAENISRVLYPNDNFFEGKE
L RLKQEYFVVAATLQDIIRRF
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 LAENISRVLYPNDNFFEGKEL RLKQEYFVVAATLQDIIRRF
Mouse LAENISRVLYPNDNFFEGKEL RLKQEYFVVAATLQDIIRRF
Rat LAENISRVLYPNDKFFEGKEL RLKQEYFVVAATLQDIIRRF
Bovine LAENISRVLYPNDNFFEGKEL RLKQEYFVVAATLQDIIRRF
Rabbit LAENISRVLYPNDNFFEGKEL RLKQEYFVVAATLQDIIRRF
Sheep LAENISRVLYPNDNFFEGKEL RLKQEYFVVAATLQDIIRRF
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
Chain
2 – 842
Glycogen phosphorylase, muscle form
Helix
291 – 313
Literature citations
The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).
Tsujino S.; Shanske S.; Nonaka I.; DiMauro S.;
Muscle Nerve 3:S23-S27(1995)
Cited for: VARIANTS GSD5 SER-205; PRO-292; PRO-397; THR-543; LYS-655 AND PHE-709 DEL;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.