Variant position: 655 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 PAVGDRLRVIFLENYRVSLA EKVIPAADLSEQISTAGTEAS
Mouse PAVGDRLRVIFLENYRVSLA EKVIPAADLSEQISTAGTEAS
Rat PAVGDRFRVIFLENYRVSLA EKVIPAADLSEQISTAGTEAS
Bovine PVVGDRLRVIFLENYRVSLA EKVIPAADLSEQISTAGTEAS
Rabbit PVVGDRLRVIFLENYRVSLA EKVIPAADLSEQISTAGTEAS
Sheep PVVGDRLRVIFLENYRVSLA EKVIPAADLSEQISTAGTEAS
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
651 – 657
Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease).
Tsujino S.; Shanske S.; Martinuzzi A.; Heiman-Patterson T.; Dimauro S.;
Hum. Mutat. 6:276-277(1995)
Cited for: VARIANTS GSD5 PRO-397 AND LYS-655;
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;
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