Variant position: 18 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 MSGNGNAAATAEENSPK MRVIRVGTRKSQLARIQTDSV
Mouse MSGNGGAATTAEENGSK MRVIRVGTRKSQLARIQTDTV
Rat MSGNGGAATTAEENGSM MRVIRVGTRKSQLARIQTDTV
Bovine MSGNGNAAAIAEEDTPK MRVIRVGTRKSQLARIQTDSV
Slime mold -----------MSSITK RDKVIIGSRKSQLAMLQTEWV
Baker's yeast -------------MGP- -ETLHIGGRKSKLAVIQSNHV
Fission yeast --------------MPS CTSFPIGTRKSKLAVIQSEII
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 – 1 Removed
2 – 361 Porphobilinogen deaminase
2 – 2 N-acetylserine
15 – 15 Phosphoserine
Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.
Kauppinen R.; von und zu Fraunberg M.;
Clin. Chem. 48:1891-1900(2002)
Cited for: VARIANTS AIP ILE-18; PHE-96; HIS-99; GLY-122; PRO-254 AND TYR-261;
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