Sequence information
Variant position: 82 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 104 The length of the canonical sequence.
Location on the sequence:
HHPEWFNVYNKVHITLSTHE
C AGLSERDINLASFIEQVAVS
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 HHPEWFNVYNKVHITLSTHEC -------AGLSERDINLASFIEQVAVS
Mouse HHPEWFNVYNKVHITLSTHEC -------AGLSERDINLASF
Rat HHPEWFNVYNKVHITLSTHEC -------AGLSERDINLASF
Bovine HHPEWFNVYNKVHITLSTHEC -------AGLSERDVNLASF
Chicken HHPEWFNVYNKVHITLSTHEC -------TGLSERDINLASF
Xenopus laevis HHPEWFNVYDKVHITLSTHDC -------GGLSERDINLASF
Caenorhabditis elegans HHPEWFNVYNKVDITLSTHDC -------GGLSPNDVKLATF
Drosophila HHPEWFNCYNKVDVTLSTHDV -------GGLSSQDIRMATH
Slime mold HHPEWFNVYNRVEITLATHDC -------SGLSVNDTKMADI
Baker's yeast HHPLIHTSYTWVKLELHTHDI DPKDGAHSQLSDIDVRMAKR
Fission yeast HHPEWTNVYNKVDITLTTHDT -------KGLTEKDLKLAEF
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
Chain
2 – 104
Pterin-4-alpha-carbinolamine dehydratase
Literature citations
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.
Citron B.A.; Kaufman S.; Milstien S.; Naylor E.W.; Greene C.L.; Davis M.D.;
Am. J. Hum. Genet. 53:768-774(1993)
Cited for: VARIANT HPABH4D ARG-82;
Disclaimer:
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.