Variant position: 167 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 361 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 SLRRAAQLQRKFPHLEFRSI RGNLNTRLRKLDE-QQEFSAII
Mouse SLRRVAQLQRKFPHLEFKSI RGNLNTRLRKLDE-LQEFSAI
Rat SLRRVAQLQRKFPHLEFKSI RGNLNTRLRKLDE-QLEFSAI
Bovine SLRRAAQLQRKFPHLEFKSI RGNLNTRLRKLDE-LQEFSAI
Slime mold SLRRVAQLKKAYPHLQFKDI RGNLNTRFKKLEDDSNGYDGM
Baker's yeast SVRRSAQLKRKYPHLKFESV RGNIQTRLQKLDDPKSPYQCI
Fission yeast SIRRRALLARNFPHLRFVDI RGNVGTRLAKLDAPDSQFDCL
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 – 361 Porphobilinogen deaminase
147 – 147 Phosphoserine
Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.
Delfau M.H.; Picat C.; de Rooij F.W.M.; Hamer K.; Bogard M.; Wilson J.H.P.; Deybach J.-C.; Nordmann Y.; Grandchamp B.;
J. Clin. Invest. 86:1511-1516(1990)
Cited for: VARIANTS AIP GLN-167 AND GLN-173;
Detection of seven point mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria, by direct sequencing of in vitro amplified cDNA.
Mgone C.S.; Lanyon W.G.; Moore M.R.; Connor J.M.;
Hum. Genet. 90:12-16(1992)
Cited for: VARIANTS AIP LYS-34; GLN-167; ARG-177 AND ASN-256;
Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.
Lundin G.; Lee J.-S.; Thunell S.; Anvret M.;
Hum. Genet. 100:63-66(1997)
Cited for: VARIANTS AIP TRP-116; LEU-119; GLN-167; TRP-167; TRP-173; TRP-201 AND ASP-216;
Human porphobilinogen deaminase mutations in the investigation of the mechanism of dipyrromethane cofactor assembly and tetrapyrrole formation.
Shoolingin-Jordan P.M.; Al-Dbass A.; McNeill L.A.; Sarwar M.; Butler D.;
Biochem. Soc. Trans. 31:731-735(2003)
Cited for: CHARACTERIZATION OF VARIANTS AIP GLY-99; GLN-149; GLN-167 AND GLN-173;
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