Variant position: 304 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 WTVAPKKARECVGK-TVTLQG NLDPCALYASEEEIGQLVKQM
Mouse WTVAPKKARERVGK-AVTLQG NLDPCALYASEEEIGRLVQQ
Sheep WTVAPEKARERVGK-TVTLQG NLDPCALYASEEEIGKLVQQ
Zebrafish WTIDPRSARVRTGG-KVSLQG NMDPCALYGTKESISEIVRR
Drosophila WTVDPLEARNLVGP-NITLQG NLDPQDMYRDPDELRNLTTE
Slime mold WTIEPSVAREMVAD-RVSLQG NLDPCVLYCGDQVIRDQTQK
Baker's yeast WSWDPREAVKINKN-RVTLQG NLDPGVMYGSKEVITKKVKQ
Fission yeast WTVSPKEAVRIRGNRRVTFQG NLDPNILYGTREIIEARTKE
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
297 – 305
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.
Mendez M.; Sorkin L.; Rossetti M.V.; Astrin K.H.; Batlle A.M.C.; Parera V.E.; Aizencang G.I.; Desnick R.J.;
Am. J. Hum. Genet. 63:1363-1375(1998)
Cited for: VARIANTS FPCT ARG-165; PHE-195; LYS-304 AND HIS-332;
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