Variant position: 201 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 QEFSAIILATAGLQRMGWHN RVGQILHPEECMYAVGQGALG
Mouse QEFSAIVLAVAGLQRMGWQN RVGQILHPEECMYAVGQGALA
Rat LEFSAIILAVAGLQRMGWQN RVGQILHPEECMYAVGQGALA
Bovine QEFSAIILATAGLQRMGWQN RVGQILHPEECMYAVGQGALG
Slime mold NGYDGMILAVAGLERMELTD HISEIIPDSISLYAVGQGSLG
Baker's yeast SPYQCIILASAGLMRMGLEN RITQRFHSDTMYHAVGQGALG
Fission yeast SQFDCLVLAAAGLFRLGLKD RIAQMLTAPFVYYAVGQGALA
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
199 – 201
Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles.
Lundin G.; Wedell A.; Thunell S.; Anvret M.;
Hum. Genet. 93:59-62(1994)
Cited for: VARIANT AIP TRP-201;
Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes 'variant acute intermittent porphyria' with normal expression of the erythroid-specific enzyme.
Chen C.-H.; Astrin K.H.; Lee G.; Anderson K.E.; Desnick R.J.;
J. Clin. Invest. 94:1927-1937(1994)
Cited for: VARIANTS AIP PHE-93; TRP-116; TRP-201 AND PHE-247;
Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.
Lundin G.; Lee J.-S.; Thunell S.; Anvret M.;
Hum. Genet. 100:63-66(1997)
Cited for: VARIANTS AIP TRP-116; LEU-119; GLN-167; TRP-167; TRP-173; TRP-201 AND ASP-216;
Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.
De Siervi A.; Rossetti M.V.; Parera V.E.; Astrin K.H.; Aizencang G.I.; Glass I.A.; Batlle A.M.C.; Desnick R.J.;
Am. J. Med. Genet. 86:366-375(1999)
Cited for: VARIANTS AIP PRO-34; ARG-111; TRP-173; TRP-201; 329-LEU--GLN-332 DEL AND SER-335;
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