Variant position: 245 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 RAKDQDILDLVGVLHDPETL LRCIAERAFLRHLEGGCSVPV
Mouse RAKDQDILDLVSVLHDPETL LRCIAERAFLRHLEGGCSVPV
Rat RAKDQDILDLVGVLHDPETL LRCIAERAFLRHLEGGCSVPV
Bovine RAKDQDILDLVGVLHDPETL LRCIAERSFLRHLEGGCSVPV
Slime mold KDGDDFIQSILNPLIHRESM YCCEAERSMLRDLEGGCHVPI
Baker's yeast RKGDTKMMKILDEICDLNAT ICCLSERALMRTLEGGCSVPI
Fission yeast RADDKEMIEMLKPLQHQETL YACLAERALMKRLQGGCAIPI
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
Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.
Delfau M.H.; Picat C.; de Rooij F.W.M.; Voortman G.; Deybach J.-C.; Nordmann Y.; Grandchamp B.;
Am. J. Hum. Genet. 49:421-428(1991)
Cited for: VARIANTS AIP GLN-149 AND ARG-245;
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