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UniProtKB/Swiss-Prot Q6P2Q9: Variant p.Arg2310Lys

Pre-mRNA-processing-splicing factor 8
Gene: PRPF8
Chromosomal location: 17p13.3
Variant information

Variant position:  2310
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 Lysine (K) at position 2310 (R2310K, p.Arg2310Lys).
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:  Similar physico-chemical property. Both residues are large size and basic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
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 13 (RP13) [MIM:600059]: 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:11468273, ECO:0000269|PubMed:11910553, ECO:0000269|PubMed:12714658, ECO:0000269|PubMed:17317632, ECO:0000269|Ref.37}. 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 RP13; reduces interaction with SNRNP200 and EFTUD2.
Any additional useful information about the variant.

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



Sequence information

Variant position:  2310
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2335
The length of the canonical sequence.

Location on the sequence:   PNMKYELQLANPKEFYHEVH  R PSHFLNFALLQEGEVYSADR
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                         PNMKYELQLANPKEFYHEVHRPSHFLNFALL----QEG-EVYSADR

Mouse                         PNMKYELQLANPKEFYHEVHRPSHFLNFALL----QEG-EV

Caenorhabditis elegans        PAMKFDVCLSNPKEYYHEDHRPVHFHNFKAF----DDPLGT

Slime mold                    TNMTYGLKLDYPKNFYDESHRPAHFQNWTQMAPSANDD-EE

Baker's yeast                 QEGDYNFKYGIPLEFYNEMHRPVHFLQFSEL----AGD-EE

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 – 2335 Pre-mRNA-processing-splicing factor 8
Region 2301 – 2335 Required for interaction with EFTUD2 and SNRNP200


Literature citations

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
McKie A.B.; McHale J.C.; Keen T.J.; Tarttelin E.E.; Goliath R.; van Lith-Verhoeven J.J.; Greenberg J.; Ramesar R.S.; Hoyng C.B.; Cremers F.P.; Mackey D.A.; Bhattacharya S.S.; Bird A.C.; Markham A.F.; Inglehearn C.F.;
Hum. Mol. Genet. 10:1555-1562(2001)
Cited for: VARIANTS RP13 THR-2301; LEU-2304; ARG-2309; PRO-2309; GLY-2310; LYS-2310 AND LEU-2314;

Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13).
van Lith-Verhoeven J.J.; van der Velde-Visser S.D.; Sohocki M.M.; Deutman A.F.; Brink H.M.; Cremers F.P.; Hoyng C.B.;
Ophthalmic Genet. 23:1-12(2002)
Cited for: VARIANT RP13 LYS-2310;

Structure of a multipartite protein-protein interaction domain in splicing factor Prp8 and its link to retinitis pigmentosa.
Pena V.; Liu S.; Bujnicki J.M.; Luehrmann R.; Wahl M.C.;
Mol. Cell 25:615-624(2007)
Cited for: CHARACTERIZATION OF VARIANTS RP13 LEU-2304; PRO-2309; ARG-2309; GLY-2310; LYS-2310 AND LEU-2314; INTERACTION WITH EFTUD2 AND SNRNP200;

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.