Variant position: 32 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 EENSPKMRVIRVGTRKSQLA RIQTDSVVATLKASYPGLQFE
Mouse EENGSKMRVIRVGTRKSQLA RIQTDTVVAMLKALYPGIQFE
Rat EENGSMMRVIRVGTRKSQLA RIQTDTVVAMLKTLYPGIQFE
Bovine EEDTPKMRVIRVGTRKSQLA RIQTDSVVATLKALYPGLQFE
Slime mold MSSITKRDKVIIGSRKSQLA MLQTEWVRDRIQELNPGIIVE
Baker's yeast --MGP--ETLHIGGRKSKLA VIQSNHVLKLIEEKYPDYDCK
Fission yeast ---MPSCTSFPIGTRKSKLA VIQSEIIREELEKHYPHLEFP
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
15 – 15 Phosphoserine
29 – 45
Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.
Ulbrichova D.; Schneider-Yin X.; Mamet R.; Saudek V.; Martasek P.; Minder E.I.; Schoenfeld N.;
Blood Cells Mol. Dis. 42:167-173(2009)
Cited for: VARIANT AIP PRO-32; CHARACTERIZATION OF VARIANTS AIP PRO-32 AND ASN-178;
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