Variant position: 16 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 MEEGMNVLHDFGIQS THYLQVNYQDSQDWFILVSVI
Mouse MEEGMNILHDFGIQS TRYLQVNYQDSQDWFILVSVI
Rat MEERMNVLHDFGIQS TRYLQVNYEDSQDWFVLVSVI
Bovine MEKGMNVLHDFGIQS THYLQVNYQNSQDWFILVSVI
Cat MEKGMNVLHDFGIQS THYLQVNYQDSQDWFILVSVI
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.
Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (von Gierke disease).
Wu M.-C.; Tsai F.-J.; Lee C.-C.; Lin S.-P.; Wu J.-Y.;
Hum. Mutat. 15:390-390(2000)
Cited for: VARIANT GSD1A ALA-16;
Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type Ia, including novel mutations K76N, V166A and 540del5.
Kozak L.; Francova H.; Hrabincova E.; Stastna S.; Peskova K.; Elleder M.;
Hum. Mutat. 16:89-89(2000)
Cited for: VARIANTS GSD1A ASN-76; ARG-77; CYS-83; ALA-166; ARG-188 AND CYS-295;
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.