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UniProtKB/Swiss-Prot Q8WWY3: Variant p.Ala216Pro

U4/U6 small nuclear ribonucleoprotein Prp31
Gene: PRPF31
Chromosomal location: 19q13.42
Variant information

Variant position:  216
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 Alanine (A) to Proline (P) at position 216 (A216P, p.Ala216Pro).
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 small size and hydrophobic (A) to medium size and hydrophobic (P)
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 11 (RP11) [MIM:600138]: 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:11545739, ECO:0000269|PubMed:12444105, ECO:0000269|PubMed:12923864, ECO:0000269|PubMed:17412961, ECO:0000269|PubMed:8808602}. 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 RP11; mislocation of the protein in the cytoplasm, but no effect on interaction with PRPF6; the result may be a deficiency in splicing function in the retina.
Any additional useful information about the variant.

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



Sequence information

Variant position:  216
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  499
The length of the canonical sequence.

Location on the sequence:   ELNASKHRIYEYVESRMSFI  A PNLSIIIGASTAAKIMGVAG
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                         ELNASKHRIYEYVESRMSFIAPNLSIIIGASTAAKIMGVAG

Mouse                         ELNASKHRIYEYVESRMSFIAPNLSIIIGASTAAKIMGVAG

Xenopus laevis                ELNQSKHRIYEYVESRMSFIAPNLSIIVGASTAAKIMGIAG

Xenopus tropicalis            ELNQSKHRIYEYVESRMSFIAPNLSIIVGASTAAKIMGIAG

Zebrafish                     ELNQSKHRIYEYVESRMSFIAPNLSIIVGASTAAKIMGVAG

Baker's yeast                 NLWKLQEDIGQYIASKISIIAPNVCFLVGPEIAAQLIAHAG

Fission yeast                 QLGEEKQKIIEYVQSRISVVAPNLSAVVGSTTAANLIGIAG

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 1 – 499 U4/U6 small nuclear ribonucleoprotein Prp31
Domain 215 – 333 Nop


Literature citations

Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP.
Liu S.; Li P.; Dybkov O.; Nottrott S.; Hartmuth K.; Luehrmann R.; Carlomagno T.; Wahl M.C.;
Science 316:115-120(2007)
Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 78-333 IN COMPLEX WITH SNU13 AND STEM-LOOP RNA OF U4 SNRNA; COILED-COIL DOMAIN; INTERACTION WITH PRPF6; CHARACTERIZATION OF VARIANTS RP11 GLU-194 AND PRO-216; MUTAGENESIS OF HIS-270;

Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype.
Al-Maghtheh M.; Vithana E.; Tarttelin E.; Jay M.; Evans K.; Moore T.; Bhattacharya S.; Inglehearn C.F.;
Am. J. Hum. Genet. 59:864-871(1996)
Cited for: VARIANT RP11 PRO-216;

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).
Vithana E.N.; Abu-Safieh L.; Allen M.J.; Carey A.; Papaioannou M.; Chakarova C.; Al-Maghtheh M.; Ebenezer N.D.; Willis C.; Moore A.T.; Bird A.C.; Hunt D.M.; Bhattacharya S.S.;
Mol. Cell 8:375-381(2001)
Cited for: VARIANTS RP11 GLU-194 AND RP11 PRO-216; TISSUE SPECIFICITY;

Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31.
Deery E.C.; Vithana E.N.; Newbold R.J.; Gallon V.A.; Bhattacharya S.S.; Warren M.J.; Hunt D.M.; Wilkie S.E.;
Hum. Mol. Genet. 11:3209-3219(2002)
Cited for: CHARACTERIZATION OF VARIANTS RP11 GLU-194 AND PRO-216; SUBCELLULAR LOCATION; NUCLEAR LOCALIZATION SIGNAL; MUTAGENESIS OF 351-ARG--GLU-364;

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.