UniProtKB/Swiss-Prot P08397: Variant p.Gly111Arg

Porphobilinogen deaminase
Gene: HMBS
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Variant information Variant position:

111 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 Glycine (G) to Arginine (R) at position 111 (G111R, p.Gly111Arg). 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 glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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; severely decreased hydroxymethylbilane synthase activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs118204107 [ dbSNP | Ensembl ]

Sequence information Variant position:

111 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:

DLVVHSLKDLPTVLPPGFTI G AICKRENPHDAVVFHPKFVG 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                         DLVVHSLKDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVG

Mouse                         DLVVHSLKDVPTILPPGFTIGAICKRENPCDAVVFHPKFIG

Rat                           DLVVHSLKDVPTILPPGFTIGAICKRENPCDAVVFHPKFIG

Bovine                        DLVVHSLKDLPTVLPPGFTIGAVCKRESPYDAVVFHPKFVG

Slime mold                    DLAVHSLKDIPTKLPDGLKLGAITKRYNTSDAFIANAKKHG

Baker's yeast                 DLIVHSLKDMPTLLPEGFELGGITKRVDPTDCLVMPFYSAY

Fission yeast                 RILVHSLKDLPSEMPDGMVIACIPKRSCPLDAIVFKAGSHY

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
Mutagenesis	120 – 120	H -> A. Decreased hydroxymethylbilane synthase activity.
Mutagenesis	120 – 120	H -> P. Loss of hydroxymethylbilane synthase activity.
Beta strand	108 – 113

Literature citations
Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.
Gu X.-F.; de Rooij F.W.M.; de Baar E.; Bruyland M.; Lissens W.; Nordmann Y.; Grandchamp B.;
Hum. Mol. Genet. 2:1735-1736(1993)
Cited for: VARIANT AIP ARG-111; Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.
De Siervi A.; Rossetti M.V.; Parera V.E.; Astrin K.H.; Aizencang G.I.; Glass I.A.; Batlle A.M.C.; Desnick R.J.;
Am. J. Med. Genet. 86:366-375(1999)
Cited for: VARIANTS AIP PRO-34; ARG-111; TRP-173; TRP-201; 329-LEU--GLN-332 DEL AND SER-335; 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; Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).
Solis C.; Lopez-Echaniz I.; Sefarty-Graneda D.; Astrin K.H.; Desnick R.J.;
Mol. Med. 5:664-671(1999)
Cited for: VARIANTS AIP ARG-111; TRP-116; TRP-167; TRP-173 AND VAL-212; CHARACTERIZATION OF VARIANT AIP VAL-212; Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene.
Ramdall R.B.; Cunha L.; Astrin K.H.; Katz D.R.; Anderson K.E.; Glucksman M.; Bottomley S.S.; Desnick R.J.;
Genet. Med. 2:290-295(2000)
Cited for: VARIANTS AIP PRO-78; GLY-80; ARG-111 AND TRP-173; Identification and characterization of two novel mutations that produce acute intermittent porphyria: a 3-base deletion (841-843delGGA) and a missense mutation (T35M).
De Siervi A.; Weiss Cadiz D.E.; Parera V.E.; Batlle A.M.C.; Rossetti M.V.;
Hum. Mutat. 16:373-373(2000)
Cited for: VARIANTS AIP MET-35; ARG-111 AND GLY-281 DEL; 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; 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; Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.
Gonzaga A.D.; de Amorim L.M.; Fonseca A.B.; Nogueira T.L.; Pereira O.M.; Nagai M.A.; de Oliveira Barretto O.C.; Ribeiro G.S.;
Ann. Hum. Genet. 79:162-172(2015)
Cited for: VARIANTS AIP ARG-111 AND PRO-338; From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria.
Lenglet H.; Schmitt C.; Grange T.; Manceau H.; Karboul N.; Bouchet-Crivat F.; Robreau A.M.; Nicolas G.; Lamoril J.; Simonin S.; Mirmiran A.; Karim Z.; Casalino E.; Deybach J.C.; Puy H.; Peoc'h K.; Gouya L.;
Hum. Mol. Genet. 27:1164-1173(2018)
Cited for: VARIANTS AIP PHE-30 AND GLU-235; CHARACTERIZATION OF VARIANTS AIP SER-24; CYS-26; HIS-26; ASN-28; PHE-30; MET-35; PHE-96; ARG-111; TRP-116; ASP-124; GLN-149; LEU-149; HIS-217; GLU-235; ARG-247; ALA-250; GLN-250; VAL-250; TYR-256 AND MET-267;

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.