Variant position: 55 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 TDSVVATLKASYPGLQFEII AMSTTGDKILDTALSKIG---EKS
Mouse TDTVVAMLKALYPGIQFEII AMSTTGDKILDTALSKIG---
Rat TDTVVAMLKTLYPGIQFEII AMSTTGDKILDTALSKIG---
Bovine TDSVVATLKALYPGLQFEII AMSTTGDKILDTALSKIG---
Slime mold TEWVRDRIQELNPGIIVEIK TMDTTGDKVLDVSLSKIG---
Baker's yeast SNHVLKLIEEKYPDYDCKVF TLQTLGDQIQFKPLYSFG---
Fission yeast SEIIREELEKHYPHLEFPII SRDTIGDEILSKALFEFKRQL
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
69 – 69 Phosphoserine
74 – 74 N6-acetyllysine
49 – 56
Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis.
Gu X.-F.; de Rooij F.W.M.; Voortman G.; Te Velde K.; Deybach J.-C.; Nordmann Y.; Grandchamp B.;
Hum. Genet. 93:47-52(1994)
Cited for: VARIANTS AIP THR-31; SER-55; LEU-149; LYS-223 AND LYS-250;
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