UniProtKB/Swiss-Prot P08397: Variant p.Arg173Gln

Porphobilinogen deaminase
Gene: HMBS
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Variant information Variant position:

173 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Glutamine (Q) at position 173 (R173Q, p.Arg173Gln). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Variant description:

In AIP; less than 1% of wild-type activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs118204096 [ dbSNP | Ensembl ]

Sequence information Variant position:

173 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:

QLQRKFPHLEFRSIRGNLNT R LRKLDEQQEFSAIILATAGL 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                         QLQRKFPHLEFRSIRGNLNTRLRKLDE-QQEFSAIILATAGL

Mouse                         QLQRKFPHLEFKSIRGNLNTRLRKLDE-LQEFSAIVLAVAG

Rat                           QLQRKFPHLEFKSIRGNLNTRLRKLDE-QLEFSAIILAVAG

Bovine                        QLQRKFPHLEFKSIRGNLNTRLRKLDE-LQEFSAIILATAG

Slime mold                    QLKKAYPHLQFKDIRGNLNTRFKKLEDDSNGYDGMILAVAG

Baker's yeast                 QLKRKYPHLKFESVRGNIQTRLQKLDDPKSPYQCIILASAG

Fission yeast                 LLARNFPHLRFVDIRGNVGTRLAKLDAPDSQFDCLVLAAAG

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
Chain	2 – 361	Porphobilinogen deaminase
Helix	170 – 179

Literature citations
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; CRIM-positive mutations of acute intermittent porphyria in Finland.
Kauppinen R.; Peltonen L.; Pihlaja H.; Mustajoki P.;
Hum. Mutat. 1:392-396(1992)
Cited for: VARIANTS AIP TRP-167 AND GLN-173; Acute intermittent porphyria in Finland: 19 mutations in the porphobilinogen deaminase gene.
Kauppinen R.; Mustajoki S.; Pihlaja H.; Peltonen L.; Mustajoki P.;
Hum. Mol. Genet. 4:215-222(1995)
Cited for: VARIANTS AIP CYS-26; ARG-98; TRP-116; TRP-167; GLN-173; TRP-173; CYS-195; GLY-225; ARG-238; PHE-247 AND ARG-280; Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations.
Whatley S.D.; Woolf J.R.; Elder G.H.;
Hum. Genet. 104:505-510(1999)
Cited for: VARIANTS AIP CYS-22; CYS-26; HIS-26; PRO-31; SER-42; ASN-61; ARG-85; GLY-90; ARG-111; GLN-173; TRP-173; ARG-177; CYS-195; ASP-219; ARG-247 AND ILE-269; 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; Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.
Gregor A.; Schneider-Yin X.; Szlendak U.; Wettstein A.; Lipniacka A.; Ruefenacht U.B.; Minder E.I.;
Hum. Mutat. 19:310-310(2002)
Cited for: VARIANTS AIP HIS-26; TYR-61; VAL-93 DEL; ARG-111; GLN-173 AND ASP-335; 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; Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.
Schneider-Yin X.; Hergersberg M.; Schuurmans M.M.; Gregor A.; Minder E.I.;
J. Inherit. Metab. Dis. 27:625-631(2004)
Cited for: VARIANTS AIP ARG-111 AND GLN-173; Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
Ulbrichova D.; Hrdinka M.; Saudek V.; Martasek P.;
FEBS J. 276:2106-2115(2009)
Cited for: VARIANTS AIP CYS-26; HIS-26; GLN-173; LYS-204 AND ASP-250; CHARACTERIZATION OF VARIANTS AIP CYS-26; HIS-26; GLN-173; LYS-204 AND ASP-250;

Disclaimer: 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.