Variant position: 116 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 LQNTMVNLALENACDEATYQ LGLDMEELEEIEEDAGLGNGG
Mouse LQNTMVNLALENACDEATYQ LGLDMEELEEIEEDAGLGNGG
Rat LQNTMVNLALENACDEATYQ LGLDMEELEEIEEDAGLGNGG
Bovine LQNTMVNLALENACDEATYQ LGLDMEELEEIEEDAGLGNGG
Rabbit LQNTMVNLALENACDEATYQ LGLDMEELEEIEEDAGLGNGG
Sheep LQNTMVNLALENACDEATYQ LGLDMEELEEIEEDAGLGNGG
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
109 – 109 Involved in the association of subunits
82 – 169 Missing. In isoform 2.
115 – 117
A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact.
Gamez J.; Fernandez R.; Bruno C.; Andreu A.L.; Cervera C.; Navarro C.; Schwartz S.; Dimauro S.;
Muscle Nerve 22:1136-1138(1999)
Cited for: VARIANT GSD5 PRO-116;
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.