Variant position: 119 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 DLPTVLPPGFTIGAICKREN PHDAVVFHPKFVGKT--LETLPE
Mouse DVPTILPPGFTIGAICKREN PCDAVVFHPKFIGKT--LETL
Rat DVPTILPPGFTIGAICKREN PCDAVVFHPKFIGKT--LETL
Bovine DLPTVLPPGFTIGAVCKRES PYDAVVFHPKFVGKT--LETL
Slime mold DIPTKLPDGLKLGAITKRYN TSDAFIANAKKHGKNCKLSEL
Baker's yeast DMPTLLPEGFELGGITKRVD PTDCLVMPFYSAYKS--LDDL
Fission yeast DLPSEMPDGMVIACIPKRSC PLDAIVFKAGSHYKT--VADL
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
Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
Lundin G.; Hashemi J.; Floderus Y.; Thunell S.; Sagen E.; Laegreid A.; Wassif W.; Peters T.; Anvret M.;
J. Med. Genet. 32:979-981(1995)
Cited for: VARIANTS AIP LEU-119 AND ALA-250;
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;
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