Variant position: 142 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 RDPEVVASELGYVFQAITLT RQRLAGRVPLIGFAGAPWTLM
Mouse RDPAAAASELGYVFQAITLT RQRLAGRVPLIGFAGAPWTLM
Sheep RDPATVASELGYVFQAITLT RQQLAGRVPLIGFAGAPWTLM
Zebrafish KTQVDVYSELDYVFKAITLT RHKIEGKVPLIGFTGAPWTLM
Drosophila -TPDGALSRLSYVGDAITMM RHKLEGRVPLIGFTGAPWTLM
Slime mold QFPVDVNKELGYVFDALTLT RKRLEGRVPLIGFTGAPWTLM
Baker's yeast DYKVDVLKELDWAFKAITMT RIKLDGEVPLFGFCGGPWTLM
Fission yeast EKTPNISAKLGYVMDAISLT REKLDGQVPLMGFSGAPWTIM
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
132 – 145
Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).
Cappellini M.D.; Martinez Di Montemuros F.; Tavazzi D.; Fargion S.; Pizzuti A.; Comino A.; Cainelli T.; Fiorelli G.;
Hum. Mutat. 17:350-350(2001)
Cited for: VARIANTS FPCT GLN-142; GLN-161; PHE-219 AND SER-235;
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