Variant position: 22 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 SGNGNAAATAEENSPKMRVI RVGTRKSQLARIQTDSVVATL
Mouse SGNGGAATTAEENGSKMRVI RVGTRKSQLARIQTDTVVAML
Rat SGNGGAATTAEENGSMMRVI RVGTRKSQLARIQTDTVVAML
Bovine SGNGNAAAIAEEDTPKMRVI RVGTRKSQLARIQTDSVVATL
Slime mold ----------MSSITKRDKV IIGSRKSQLAMLQTEWVRDRI
Baker's yeast ------------MGP--ETL HIGGRKSKLAVIQSNHVLKLI
Fission yeast -------------MPSCTSF PIGTRKSKLAVIQSEIIREEL
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
2 – 2 N-acetylserine
15 – 15 Phosphoserine
20 – 28
Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria.
Ong P.M.; Lanyon W.G.; Hift R.J.; Halkett J.; Cramp C.E.; Moore M.R.; Connor J.M.;
Hum. Hered. 48:24-29(1998)
Cited for: VARIANT AIP CYS-22;
Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations.
Whatley S.D.; Woolf J.R.; Elder G.H.;
Hum. Genet. 104:505-510(1999)
Cited for: VARIANTS AIP CYS-22; CYS-26; HIS-26; PRO-31; SER-42; ASN-61; ARG-85; GLY-90; ARG-111; GLN-173; TRP-173; ARG-177; CYS-195; ASP-219; ARG-247 AND ILE-269;
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.