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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6P2Q9: Variant p.Phe2304Leu

Pre-mRNA-processing-splicing factor 8
Gene: PRPF8
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Variant information Variant position: help 2304 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 Phenylalanine (F) to Leucine (L) at position 2304 (F2304L, p.Phe2304Leu). 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 aromatic (F) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 RP13. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 2304 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2335 The length of the canonical sequence.
Location on the sequence: help MGVRHDPNMKYELQLANPKE F YHEVHRPSHFLNFALLQEGE 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                         MGVRHDPNMKYELQLANPKEFYHEVHRPSHFLNFALL----QEG-E

Mouse                         MGVRHDPNMKYELQLANPKEFYHEVHRPSHFLNFALL----

Caenorhabditis elegans        QGQRWSPAMKFDVCLSNPKEYYHEDHRPVHFHNFKAF----

Slime mold                    MGVKHSTNMTYGLKLDYPKNFYDESHRPAHFQNWTQMAPSA

Baker's yeast                 MGTAFNQEGDYNFKYGIPLEFYNEMHRPVHFLQFSEL----
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 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; 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.