Variant position: 179 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 FWAVQLNVCLSRIYLAAHFP HQVVAGVLSGIAVAETFSHIH
Mouse FWAVQLNVCLSRIYLAAHFP HQVVAGVLSGIAVAETFSHIR
Rat YWAVQLNVCLSRIYLAAHFP HQVVAGVLSGIAVAETFSHIR
Bovine FWVVQLNVCLSRIYLAAHFP HQVVAGVLSGIAVAETFRHIQ
Cat FWAVQLNVCLSRIYLAAHFP HQVVAGVLSGIAVAETFRHIQ
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
169 – 179 Lumenal
176 – 176 Nucleophile
170 – 170 Substrate
176 – 356 Missing. In isoform 2.
176 – 176 H -> A. Loss of catalytic activity.
179 – 179 H -> A. Loss of catalytic activity.
197 – 197 H -> T. Partial loss of catalytic activity.
Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.
Akanuma J.; Nishigaki T.; Fujii K.; Matsubara Y.; Inui K.; Takahashi K.; Kure S.; Suzuki Y.; Ohura T.; Miyabayashi S.; Ogawa E.; Iinuma K.; Okada S.; Narisawa K.;
Am. J. Med. Genet. 91:107-112(2000)
Cited for: VARIANTS GSD1A HIS-83; ASP-122; PRO-179 AND LEU-257;
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.