Variant position: 278 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 EGGCSVPVAVHTAMK-----DGQLY LTGGVWSLDGSDSIQETMQAT
Mouse EGGCSVPVAVHTVMK-----DGQLY LTGGVWSLDGSDSMQE
Rat EGGCSVPVAVHTVMK-----DGQLY LTGGVWSLDGSDSMQE
Bovine EGGCSVPVAVHTAIK-----DGQLY LTGGVWSLNGAETMQD
Slime mold EGGCHVPIGVVTKLHNQSQPDETLE INAIVLNLDGSKYIES
Baker's yeast EGGCSVPIGVESKYN---EETKKLL LKAIVVDVEGTEAVED
Fission yeast QGGCAIPIGVQTDVLAISNSSYRIS LLGTVLSADGLRAAFG
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
261 – 261 S-(dipyrrolylmethanemethyl)cysteine
275 – 283
Three splicing defects, an insertion, and two missense mutations responsible for acute intermittent porphyria.
Mustajoki S.; Pihlaja H.; Ahola H.; Petersen N.E.; Mustajoki P.; Kauppinen R.;
Hum. Genet. 102:541-548(1998)
Cited for: VARIANTS AIP MET-222 AND PRO-278;
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