Variant position: 252 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 LDLVGVLHDPETLLRCIAER AFLRHLEGGCSVPVAVHTAMK-----
Mouse LDLVSVLHDPETLLRCIAER AFLRHLEGGCSVPVAVHTVMK
Rat LDLVGVLHDPETLLRCIAER AFLRHLEGGCSVPVAVHTVMK
Bovine LDLVGVLHDPETLLRCIAER SFLRHLEGGCSVPVAVHTAIK
Slime mold QSILNPLIHRESMYCCEAER SMLRDLEGGCHVPIGVVTKLH
Baker's yeast MKILDEICDLNATICCLSER ALMRTLEGGCSVPIGVESKYN
Fission yeast IEMLKPLQHQETLYACLAER ALMKRLQGGCAIPIGVQTDVL
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;
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