Variant position: 330 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 EDDPQLVGITARNIPRGPQL AAQNLGISLANLLLSKGAKNI
Mouse EDDPQLVGITARNIPRGAQL AAENLGISLASLLLNKGAKNI
Rat EDDPQLVGITARNIPRGAQL AAENLGISLASLLLNKGAKNI
Bovine EDDPQLVGITARNIPRQPQL AAENLGISLATLLLNKGAKNI
Slime mold ----------------GPSI QYYQLGKSIAQDLINKGSKDI
Baker's yeast ----------------NVKE DSMACGKILAERMIADGAKKI
Fission yeast ----------------SSEE EAEELGITVALALLKNGAGPI
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
325 – 344
A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.
Yang J.; Wang H.; Yin K.; Hua B.; Zhu T.; Zhao Y.; Guo S.; Yu X.; Wu W.; Zhou Z.;
Cited for: VARIANT AIP PRO-330;
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