UniProtKB/Swiss-Prot P00439: Variant p.Arg261Gln

Phenylalanine-4-hydroxylase
Gene: PAH
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Variant information Variant position:

261 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Arginine (R) to Glutamine (Q) at position 261 (R261Q, p.Arg261Gln). 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:

Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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:

In HPA and PKU; mild; haplotypes 1,2,4,22, 24,28. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs5030849 [ dbSNP | Ensembl ]

Sequence information Variant position:

261 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

452 The length of the canonical sequence.
Location on the sequence:

RLRPVAGLLSSRDFLGGLAF R VFHCTQYIRHGSKPMYTPEP 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                         RLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEP

Mouse                         RLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEP

Rat                           RLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEP

Bovine                        RLRPVAGLLSSRDFLGGLAFRVFHCTQYIRHGSKPMYTPEP

Caenorhabditis elegans        TIRPVAGLLSSRDFLAGLAFRVFHSTQYIRHHSAPKYTPEP

Drosophila                    TLRPVAGLLSSRDFLAGLAFRVFHSTQYIRHPSKPMYTPEP

Slime mold                    RIRPVQGLLSARDFLNGLAFRVFHATQYIRHPSVPLYTPEP

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	1 – 452	Phenylalanine-4-hydroxylase

Literature citations
Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.
Dianzani I.; Forrest S.M.; Camaschella C.; Saglio G.; Ponzone A.; Cotton R.G.;
Am. J. Hum. Genet. 48:631-635(1991)
Cited for: VARIANT PKU GLN-261; 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; Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.
Hennermann J.B.; Vetter B.; Wolf C.; Windt E.; Buehrdel P.; Seidel J.; Moench E.; Kulozik A.E.;
Hum. Mutat. 15:254-260(2000)
Cited for: VARIANTS PKU LEU-39; PRO-41; SER-48; LEU-55; THR-65; SER-68; TYR-84; ASP-104; PRO-155; GLN-158; GLN-183; ALA-190; THR-211; ILE-230; PHE-231; GLN-243; ALA-245; TRP-252; GLN-261; LEU-281; CYS-299; SER-300; VAL-306; VAL-309; CYS-325; ASP-330; ARG-344; VAL-344; VAL-348; PRO-349; CYS-386; GLY-390; PRO-395; VAL-403; TRP-408; SER-410 AND CYS-414; VARIANTS HPA LEU-20 AND CYS-110; Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.
Muntau A.C.; Roschinger W.; Habich M.; Demmelmair H.; Hoffmann B.; Sommerhoff C.P.; Roscher A.A.;
N. Engl. J. Med. 347:2122-2132(2002)
Cited for: VARIANTS HPA LEU-39; LEU-55; VAL-65; MET-177; ALA-245; GLN-261; TYR-310; SER-314; VAL-403; TRP-408; CYS-414 AND ASN-415; VARIANTS PKU SER-48; ASP-61; SER-65; THR-65; VAL-65; GLN-158; GLN-170; GLN-261; LEU-275; LEU-281; SER-300; GLY-390; TRP-408; PRO-413; CYS-414 AND HIS-417; Mutation analysis in Hyperphenylalaninemia patients from South Italy.
Trunzo R.; Santacroce R.; D'Andrea G.; Longo V.; De Girolamo G.; Dimatteo C.; Leccese A.; Lillo V.; Papadia F.; Margaglione M.;
Clin. Biochem. 46:1896-1898(2013)
Cited for: VARIANTS HPA PHE-39 DEL; LEU-121; TYR-196; TYR-201; ILE-230; SER-300; VAL-306; MET-380; GLY-390 AND VAL-403; VARIANTS PKU VAL-65; TRP-252; GLN-261 AND TRP-408; Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.
Groselj U.; Tansek M.Z.; Kovac J.; Hovnik T.; Podkrajsek K.T.; Battelino T.;
Mol. Genet. Metab. 106:142-148(2012)
Cited for: VARIANTS PKU ALA-45; SER-48; PRO-62; SER-157; GLN-158; LEU-177; GLY-178; ALA-190; HIS-226; ALA-245; TRP-252; GLN-261; LYS-280; LEU-281; SER-300; PRO-349; GLY-390; VAL-403; TRP-408 AND ASN-415;

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.