Variant position: 20 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 357 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 MEEGMNVLHDFGIQSTHYL QVNYQDSQDWFILVSVIADLR
Mouse MEEGMNILHDFGIQSTRYL QVNYQDSQDWFILVSVIADLR
Rat MEERMNVLHDFGIQSTRYL QVNYEDSQDWFVLVSVIADLR
Bovine MEKGMNVLHDFGIQSTHYL QVNYQNSQDWFILVSVIADLR
Cat MEKGMNVLHDFGIQSTHYL QVNYQDSQDWFILVSVIADLR
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 – 357 Glucose-6-phosphatase
1 – 28 Lumenal
9 – 9 H -> A. Partial loss of catalytic activity.
Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations.
Seydewitz H.H.; Matern D.;
Hum. Mutat. 15:115-116(2000)
Cited for: VARIANTS GSD1A ARG-20; ARG-81; LEU-156 AND ASP-188;
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
Matern D.; Seydewitz H.H.; Bali D.; Lang C.; Chen Y.-T.;
Eur. J. Pediatr. 161:S10-S19(2002)
Cited for: VARIANTS GSD1A ARG-20; VAL-38; PRO-65; ARG-68; ARG-77; ARG-81; CYS-83; HIS-83; LYS-110; LEU-113; LEU-156; GLN-170; CYS-177; SER-178; ARG-188; SER-188; ARG-236; PRO-265; VAL-270; PHE-327 DEL AND ARG-345;
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.