Variant position: 253 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 367 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 ALPYIRDVAKQVKARLREAG L-APVPMIIFAKDGHFALEELA
Mouse ALPYIRDVAKRVKAGLQKAG L-APVPMIIFAKDGHFALEEL
Sheep ALPYIRDVSKRVKAGLQEAG L-APVPMIIFAKDGHFALEEL
Zebrafish SLPYLRDIARRVKDKIKESG L-DNVPMIVFAKDGHYGLEDL
Drosophila CVPYLKRIRDELVDRLTKKA I-PVVPMTLFAKGAGHSLKEQ
Slime mold CLPYLVQIGKEVKAVHPE-- ----IPLICFAKGSNFALEDL
Baker's yeast SLPYLRQIAERVPKRLQELG IMEQIPMIVFAKGSWYALDKL
Fission yeast AYPYLVRICQEVKQHLKKKK R-DEVPMIVFAKGAWYAIDQL
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
1 – 367 Uroporphyrinogen decarboxylase
Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.
Phillips J.D.; Parker T.L.; Schubert H.L.; Whitby F.G.; Hill C.P.; Kushner J.P.;
Cited for: X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF VARIANTS FPCT ASP-156; LEU-232 AND THR-260; VARIANTS FPCT GLU-25; SER-80; GLN-134; ASP-156; ARG-165; LYS-167; PRO-193; LEU-232; GLN-253 AND THR-260; CHARACTERIZATION OF VARIANTS FPCT GLU-25; SER-80; GLN-134; ASP-156; ARG-165; LYS-167; PRO-193; LEU-232; GLN-253 AND THR-260;
Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.
McManus J.F.; Begley C.G.; Sassa S.; Ratnaike S.;
Cited for: VARIANT HEP GLY-80; VARIANTS FPCT GLN-253; ARG-318 AND THR-334;
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