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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00439: Variant p.Arg241Cys

Phenylalanine-4-hydroxylase
Gene: PAH
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Variant information Variant position: help 241 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Arginine (R) to Cysteine (C) at position 241 (R241C, p.Arg241Cys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In non-PKU HPA and PKU; haplotype 34. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 241 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 452 The length of the canonical sequence.
Location on the sequence: help EDNIPQLEDVSQFLQTCTGF R LRPVAGLLSSRDFLGGLAFR 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         EDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFR

Mouse                         EDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFR

Rat                           EDNIPQLEDVSQFLQTCTGFRLRPVAGLLSSRDFLGGLAFR

Bovine                        EDNIPQLEEVSQFLQSCTGFRLRPVAGLLSSRDFLGGLAFR

Caenorhabditis elegans        PDRIPQLQDVSDFLKDCTGYTIRPVAGLLSSRDFLAGLAFR

Drosophila                    EDNIPQLEDVSNFLRDCTGFTLRPVAGLLSSRDFLAGLAFR

Slime mold                    PDNIPQLQDISNFLQECTGWRIRPVQGLLSARDFLNGLAFR

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 452 Phenylalanine-4-hydroxylase
Beta strand 241 – 244



Literature citations
Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.
Guldberg P.; Mallmann R.; Henriksen K.F.; Guettler F.;
Hum. Mutat. 8:276-279(1996)
Cited for: VARIANTS PKU LEU-40; SER-46; SER-48; 63-THR-HIS-64 DELINS PRO-ASN; THR-65; SER-68; CYS-241; ALA-245; GLN-261; LYS-280; LEU-281; CYS-299; GLY-390; HIS-394; VAL-403; TRP-408 AND CYS-414; Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations.
Byck S.; Tyfield L.; Carter K.; Scriver C.R.;
Hum. Mutat. 9:316-321(1997)
Cited for: VARIANTS PKU; VARIANTS PKU GLN-158; TRP-158; LEU-176; PRO-176; ILE-230; CYS-241; HIS-241; LEU-241; GLN-243; GLN-252; GLY-252; TRP-252; GLN-261; PRO-261; LYS-280; LEU-281; CYS-297; HIS-297; THR-322; MET-380; LEU-388; MET-388; GLN-408; TRP-408; PRO-413; SER-413 AND ASN-415; Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population.
Michiels L.; Francois B.; Raus J.; Vandevyver C.;
Hum. Mutat. Suppl. 1:S123-S124(1998)
Cited for: VARIANTS PKU PHE-39 DEL; THR-65; GLN-158; ILE-167; ALA-190; CYS-241 AND TRP-408; Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia.
Kibayashi M.; Nagao M.; Chiba S.;
J. Hum. Genet. 43:231-236(1998)
Cited for: VARIANTS NON-PKU HPA CYS-241; GLN-243 AND PRO-413; Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.
Acosta A.X.; Silva W.A. Jr.; Carvalho T.M.; Gomes M.; Zago M.A.;
Hum. Mutat. 17:122-130(2001)
Cited for: VARIANTS PKU VAL-145; LEU-176; ALA-205; SER-240; CYS-241; LYS-270; GLU-274; SER-300; PRO-311; THR-318; VAL-348; GLY-357 AND GLY-390;
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.