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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43395: Variant p.Thr494Met

U4/U6 small nuclear ribonucleoprotein Prp3
Gene: PRPF3
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Variant information Variant position: help 494 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 Threonine (T) to Methionine (M) at position 494 (T494M, p.Thr494Met). 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 medium size and polar (T) to medium size and hydrophobic (M) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In RP18; reduces phosphorylation; impairs binding to PRPF4; impairs self-association; affects interaction with the U4/U5/U6 tri-snRNP complex; does not affect global pre-mRNA splicing. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 494 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 683 The length of the canonical sequence.
Location on the sequence: help PKVRISNLMRVLGTEAVQDP T KVEAHVRAQMAKRQKAHEEA 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                         PKVRISNLMRVLGTEAVQDPTKVEAHVRAQMAKRQKAHEEA

Mouse                         PKVRISNLMRVLGTEAVQDPTKVEAHVRAQMAKRQKAHEEA

Bovine                        PKVRISNLMRVLGTEAVQDPTKVEAHVRAQMAKRQKAHEEA

Chicken                       PKVRISNLMRVLGTEAVQDPTKVEAHVRAQMAKRQKAHEEA
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 1 – 683 U4/U6 small nuclear ribonucleoprotein Prp3
Region 416 – 550 Mediates interaction with SART3
Alternative sequence 417 – 683 Missing. In isoform 2.
Helix 493 – 518



Literature citations
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
Chakarova C.F.; Hims M.M.; Bolz H.; Abu-Safieh L.; Patel R.J.; Papaioannou M.G.; Inglehearn C.F.; Keen T.J.; Willis C.; Moore A.T.; Rosenberg T.; Webster A.R.; Bird A.C.; Gal A.; Hunt D.; Vithana E.N.; Bhattacharya S.S.;
Hum. Mol. Genet. 11:87-92(2002)
Cited for: VARIANTS RP18 SER-493 AND MET-494; TISSUE SPECIFICITY; Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.
Martinez-Gimeno M.; Gamundi M.J.; Hernan I.; Maseras M.; Milla E.; Ayuso C.; Garcia-Sandoval B.; Beneyto M.; Vilela C.; Baiget M.; Antinolo G.; Carballo M.;
Invest. Ophthalmol. Vis. Sci. 44:2171-2177(2003)
Cited for: VARIANT RP18 MET-494; Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex.
Gonzalez-Santos J.M.; Cao H.; Duan R.C.; Hu J.;
Hum. Mol. Genet. 17:225-239(2008)
Cited for: CHARACTERIZATION OF VARIANT RP18 MET-494; SUBUNIT; SUBCELLULAR LOCATION;
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.