Variant position: 59 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 VATLKASYPGLQFEIIAMST TGDKILDTALSKIG---EKSLFTK
Mouse VAMLKALYPGIQFEIIAMST TGDKILDTALSKIG---EKSL
Rat VAMLKTLYPGIQFEIIAMST TGDKILDTALSKIG---EKSL
Bovine VATLKALYPGLQFEIIAMST TGDKILDTALSKIG---EKSL
Slime mold RDRIQELNPGIIVEIKTMDT TGDKVLDVSLSKIG---DKGL
Baker's yeast LKLIEEKYPDYDCKVFTLQT LGDQIQFKPLYSFG---GKAL
Fission yeast REELEKHYPHLEFPIISRDT IGDEILSKALFEFKRQLAKSL
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
58 – 60
Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria.
Schneider-Yin X.; Ulbrichova D.; Mamet R.; Martasek P.; Marohnic C.C.; Goren A.; Minder E.I.; Schoenfeld N.;
Mol. Genet. Metab. 94:343-346(2008)
Cited for: VARIANTS AIP ILE-59 AND MET-215; CHARACTERIZATION OF VARIANTS AIP ILE-59 AND MET-215;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.