Variant position: 178 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 FPHLEFRSIRGNLNTRLRKL DE-QQEFSAIILATAGLQRMGW
Mouse FPHLEFKSIRGNLNTRLRKL DE-LQEFSAIVLAVAGLQRMG
Rat FPHLEFKSIRGNLNTRLRKL DE-QLEFSAIILAVAGLQRMG
Bovine FPHLEFKSIRGNLNTRLRKL DE-LQEFSAIILATAGLQRMG
Slime mold YPHLQFKDIRGNLNTRFKKL EDDSNGYDGMILAVAGLERME
Baker's yeast YPHLKFESVRGNIQTRLQKL DDPKSPYQCIILASAGLMRMG
Fission yeast FPHLRFVDIRGNVGTRLAKL DAPDSQFDCLVLAAAGLFRLG
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
170 – 179
Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.
Floderus Y.; Shoolingin-Jordan P.M.; Harper P.;
Clin. Genet. 62:288-297(2002)
Cited for: VARIANTS AIP CYS-26; HIS-26; VAL-86; PRO-92; GLY-99; ARG-111; THR-113; GLN-173; ASN-178; GLN-225; GLY-225; TYR-256; ASP-260 AND PRO-343;
Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.
Ulbrichova D.; Schneider-Yin X.; Mamet R.; Saudek V.; Martasek P.; Minder E.I.; Schoenfeld N.;
Blood Cells Mol. Dis. 42:167-173(2009)
Cited for: VARIANT AIP PRO-32; CHARACTERIZATION OF VARIANTS AIP PRO-32 AND ASN-178;
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