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:
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 QLQRKFPHLEFRSIRGNLNT RLRKLDE-QQEFSAIILATAGL
Mouse QLQRKFPHLEFKSIRGNLNT RLRKLDE-LQEFSAIVLAVAG
Rat QLQRKFPHLEFKSIRGNLNT RLRKLDE-QLEFSAIILAVAG
Bovine QLQRKFPHLEFKSIRGNLNT RLRKLDE-LQEFSAIILATAG
Slime mold QLKKAYPHLQFKDIRGNLNT RFKKLEDDSNGYDGMILAVAG
Baker's yeast QLKRKYPHLKFESVRGNIQT RLQKLDDPKSPYQCIILASAG
Fission yeast LLARNFPHLRFVDIRGNVGT RLAKLDAPDSQFDCLVLAAAG
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
Identification of five novel mutations in the porphobilinogen deaminase gene.
Mgone C.S.; Lanyon W.G.; Moore M.R.; Louie G.V.; Connor J.M.;
Hum. Mol. Genet. 3:809-811(1994)
Cited for: VARIANTS AIP GLN-116; TRP-173; ARG-177; ILE-269 AND ARG-274;
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;
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;
Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria.
Pischik E.; Mehtaelae S.; Kauppinen R.;
Hum. Mutat. 26:496-496(2005)
Cited for: VARIANTS AIP HIS-26; TRP-173; CYS-195; ARG-247 AND ALA-250; CHARACTERIZATION OF VARIANTS AIP HIS-26; TRP-173; CYS-195; ARG-247 AND ALA-250;
Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria.
Bustad H.J.; Vorland M.; Ronneseth E.; Sandberg S.; Martinez A.; Toska K.;
Biosci. Rep. 33:0-0(2013)
Cited for: BIOPHYSICOCHEMICAL PROPERTIES; VARIANT ASN-132; CHARACTERIZATION OF VARIANTS AIP TRP-116; TRP-167; TRP-173 AND GLU-215; CHARACTERIZATION OF VARIANT ASN-132;
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