Variant position: 253 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 346 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 KWCERPEWIHVDSRPFASLS RDSGAALGLGIALHSPCYAQV
Mouse KWCERPEWVHMDSRPFASLS RDSGSALGLGIALHTPCYAQI
Rat KWCDRPEWVLVDSRPFASLS RDSGSALGLGIALHTPCYAQI
Bovine KWCERPEWVHLDSRPFASLS RDSGAALGLGIALHSPCYAQV
Zebrafish RWCSRSEWVRMDTAPFSSLN RDAGVLLGLGLAQ----YWKP
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 – 346 Glucose-6-phosphatase 3
219 – 254 Lumenal
G6PC3 mutations cause non-syndromic severe congenital neutropenia.
Banka S.; Wynn R.; Byers H.; Arkwright P.D.; Newman W.G.;
Mol. Genet. Metab. 108:138-141(2013)
Cited for: VARIANTS SCN4 SER-44; THR-116 AND CYS-253;
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