Variant position: 77 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 STCRSPEACCELTLQPLRRF P--LDAAIIFSDILVVPQALGME
Mouse STCRSPEACCELTLQPLRRF P--LDAAIIFSDILVVPQALG
Sheep STCRSPEACCELTLQPLRRF P--LDAAIIFSDILVVPQALG
Zebrafish ETCRSPEACCELTLQPLRRF P--FDAAIIFSDILVVPQAMG
Drosophila TVCRTPELACEVTMQPLRRF D--LDASIIFSDILVIPQALG
Slime mold SVCRTPELACKVTLQPLDRF P--LDAAIIFSDILVVPQAMG
Baker's yeast QTCRDAEIASEITIQPVRRY RGLIDAAIIFSDILVIPQAMG
Fission yeast EMCQTPETACELTLQPVTRF KGLLDAAIIFSDILVIPQALG
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
85 – 85 Substrate
86 – 86 Substrate
86 – 86 Transition state stabilizer
86 – 86 D -> E. 5-10% of wild-type activity.
86 – 86 D -> G. Very low activity. Binds substrate with similar geometry as wild-type.
86 – 86 D -> N. No activity. Unable to bind substrate.
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
Moran-Jimenez M.J.; Ged C.; Romana M.; de Salamanca R.E.; Taieb A.; Topi G.; D'Alessandro L.; de Verneuil H.;
Am. J. Hum. Genet. 58:712-721(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HEP LEU-62; LEU-77; GLU-281 AND CYS-311;
Uroporphyrinogen decarboxylase (UROD) cDNA sequence from Italian population.
Martinez di Montemuros F.; Fiorelli G.; Cappellini M.D.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT LEU-77;
Molecular characterization of UROD gene in Italian patients with familial porphyria cutanea tarda (f-PCT).
Martinez di Montemuros F.; Cappellini M.D.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT LEU-77;
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