Variant position: 205 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:
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 RYGNPWEKARPEFTLPVHFY GHVEHTSQGAKWVDTQVVLAM
Mouse RYGNPWEKARPEFTLPVHFY GRVEHTSQGAKWVDTQVVLAM
Rat RYGNPWEKARPEFTLPVHFY GRVEHTSQGAKWVDTQVVLAM
Bovine RYGNPWEKARPEFTLPVHFY GRVEHTSQGAKWVDTQVVLAM
Rabbit RYGNPWEKARPEFTLPVHFY GRVEHTSQGAKWVDTQVVLAM
Sheep RYGNPWEKARPEFTLPVHFY GRVEHTSQGAKWVDTQVVLAM
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
2 – 842 Glycogen phosphorylase, muscle form
204 – 204 Phosphotyrosine
Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease).
Tsujino S.; Shanske S.; Dimauro S.;
N. Engl. J. Med. 329:241-245(1993)
Cited for: VARIANTS GSD5 50-ARG--ILE-842 DEL; SER-205 AND THR-543; FUNCTION; CATALYTIC ACTIVITY;
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;
A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease.
Andreu A.L.; Bruno C.; Tamburino L.; Gamez J.; Shanske S.; Cervera C.; Navarro C.; DiMauro S.;
Neuromuscul. Disord. 9:171-173(1999)
Cited for: VARIANTS GSD5 SER-205 AND TYR-685;
McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient.
Rubio J.C.; Martin M.A.; Garcia A.; Campos Y.; Cabello A.; Culebras J.M.; Arenas J.;
Neuromuscul. Disord. 9:174-175(1999)
Cited for: VARIANT GSD5 SER-205;
Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.
Martin M.A.; Rubio J.C.; Buchbinder J.; Fernandez-Hojas R.; del Hoyo P.; Teijeira S.; Gamez J.; Navarro C.; Fernandez J.M.; Cabello A.; Campos Y.; Cervera C.; Culebras J.M.; Andreu A.L.; Fletterick R.J.; Arenas J.;
Ann. Neurol. 50:574-581(2001)
Cited for: VARIANTS GSD5 PRO-116; TRP-194; SER-205; LYS-349; ASN-488; TRP-602; ASP-660; TYR-685; VAL-704 AND ARG-798;
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.