Variant position: 247 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 KDQDILDLVGVLHDPETLLR CIAERAFLRHLEGGCSVPVAV
Mouse KDQDILDLVSVLHDPETLLR CIAERAFLRHLEGGCSVPVAV
Rat KDQDILDLVGVLHDPETLLR CIAERAFLRHLEGGCSVPVAV
Bovine KDQDILDLVGVLHDPETLLR CIAERSFLRHLEGGCSVPVAV
Slime mold GDDFIQSILNPLIHRESMYC CEAERSMLRDLEGGCHVPIGV
Baker's yeast GDTKMMKILDEICDLNATIC CLSERALMRTLEGGCSVPIGV
Fission yeast DDKEMIEMLKPLQHQETLYA CLAERALMKRLQGGCAIPIGV
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
261 – 261 S-(dipyrrolylmethanemethyl)cysteine
218 – 257 Missing. In isoform 3 and isoform 4.
241 – 257
Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
Mgone C.S.; Lanyon W.G.; Moore M.R.; Louie G.V.; Connor J.M.;
Hum. Genet. 92:619-622(1993)
Cited for: VARIANTS AIP ARG-247; THR-252 AND VAL-252;
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;
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;
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