Home  |  Contact

UniProtKB/Swiss-Prot P35913: Variant p.Arg552Gln

Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta
Gene: PDE6B
Chromosomal location: 4p16.3
Variant information

Variant position:  552
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Glutamine (Q) at position 552 (R552Q, p.Arg552Gln).
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

Involvement in disease:  Retinitis pigmentosa 40 (RP40) [MIM:613801]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:22334370, ECO:0000269|PubMed:8394174, ECO:0000269|PubMed:8557257, ECO:0000269|PubMed:8595886, ECO:0000269|PubMed:8698075, ECO:0000269|PubMed:8956055, ECO:0000269|PubMed:9543643}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In RP40; autosomal recessive.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  552
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  854
The length of the canonical sequence.

Location on the sequence:   KFQIPQEVLVRFLFSISKGY  R RITYHNWRHGFNVAQTMFTL
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                         KFQIPQEVLVRFLFSISKGYRRITYHNWRHGFNVAQTMFTL

                              KFQIPQEVLVRFLFSVSKGYRRITYHNWRHGFNVAQTMFTL

Mouse                         KFQIPQEVLVRFLFSVSKAYRRITYHNWRHGFNVAQTMFTL

Bovine                        KFQIPQEVLVRFLFSVSKGYRRITYHNWRHGFNVAQTMFTL

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.

TypePositionsDescription
Chain 2 – 851 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta
Domain 481 – 814 PDEase
Active site 557 – 557 Proton donor
Metal binding 561 – 561 Divalent metal cation 1


Literature citations

Identification of a novel R552Q mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.
Valverde D.; Baiget M.; Seminago R.; del Rio E.; Garcia-Sandoval B.; del Rio T.; Bayes M.; Balcells S.; Martinez A.; Grinberg D.; Ayuso C.;
Hum. Mutat. 8:393-394(1996)
Cited for: VARIANT RP40 GLN-552;

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.