Variant position: 80 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 GDKILDTALSKIG---EKSLFTK ELEHALEKNE----VDLVVHSLKDL
Mouse GDKILDTALSKIG---EKSLFTK ELENALEKNE----VDLV
Rat GDKILDTALSKIG---EKSLFTK ELENALEKNE----VDLV
Bovine GDKILDTALSKIG---EKSLFTK ELEHALERNE----VDLV
Slime mold GDKVLDVSLSKIG---DKGLFTK ELEDMMLNGT----IDLA
Baker's yeast GDQIQFKPLYSFG---GKALWTK ELEDHLYHDDPSKKLDLI
Fission yeast GDEILSKALFEFKRQLAKSLWTR ELEALLVTNQ----CRIL
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
78 – 86
Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene.
Ramdall R.B.; Cunha L.; Astrin K.H.; Katz D.R.; Anderson K.E.; Glucksman M.; Bottomley S.S.; Desnick R.J.;
Genet. Med. 2:290-295(2000)
Cited for: VARIANTS AIP PRO-78; GLY-80; ARG-111 AND TRP-173;
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