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UniProtKB/Swiss-Prot O75643: Variant p.Ser1087Leu

U5 small nuclear ribonucleoprotein 200 kDa helicase
Gene: SNRNP200
Chromosomal location: 2q11.2
Variant information

Variant position:  1087
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 Serine (S) to Leucine (L) at position 1087 (S1087L, p.Ser1087Leu).
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 polar (S) to medium size and hydrophobic (L)
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 33 (RP33) [MIM:610359]: 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:16723661, ECO:0000269|PubMed:19710410, ECO:0000269|PubMed:19878916, ECO:0000269|PubMed:21618346, ECO:0000269|PubMed:23029027, ECO:0000269|PubMed:23045696, ECO:0000269|PubMed:23887765, ECO:0000269|PubMed:24319334}. 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 RP33; strongly reduced RNA helicase activity.
Any additional useful information about the variant.

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



Sequence information

Variant position:  1087
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2136
The length of the canonical sequence.

Location on the sequence:   ISQLKLEGFALMADMVYVTQ  S AGRLMRAIFEIVLNRGWAQL
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                         ISQLKLEGFALMADMVYVTQSAGRLMRAIFEIVLNRGWAQL

Mouse                         ISQLKLEGFALMADMVYVTQSAGRLMRAIFEIVLNRGWAQL

Rat                           ISQLKLEGFALMADMVYVTQSAGRLMRAIFEIVLNRGWAQL

Caenorhabditis elegans        ISQLKLEGFALQADMVFVAQSAGRLFRALFEIVLWRGWAGL

Drosophila                    ISQLKLEGFALMSDMVFITQSAARLMRAIFEIVLTRGWAQL

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 – 2136 U5 small nuclear ribonucleoprotein 200 kDa helicase
Domain 981 – 1286 SEC63 1
Alternative sequence 561 – 2071 Missing. In isoform 2.
Helix 1075 – 1101


Literature citations

The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP.
Liu S.; Rauhut R.; Vornlocher H.-P.; Luehrmann R.;
RNA 12:1418-1430(2006)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; SUBUNIT; VARIANT RP33 LEU-1087;

Structural basis for functional cooperation between tandem helicase cassettes in Brr2-mediated remodeling of the spliceosome.
Santos K.F.; Jovin S.M.; Weber G.; Pena V.; Luhrmann R.; Wahl M.C.;
Proc. Natl. Acad. Sci. U.S.A. 109:17418-17423(2012)
Cited for: X-RAY CRYSTALLOGRAPHY (2.66 ANGSTROMS) OF 402-2125 IN COMPLEX WITH ATP; CATALYTIC ACTIVITY; FUNCTION; DOMAIN; CHARACTERIZATION OF VARIANT RP33 LEU-1087; MUTAGENESIS OF ARG-603; ARG-637; LYS-1544; HIS-1548 AND THR-1578;

Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.
Zhao C.; Bellur D.L.; Lu S.; Zhao F.; Grassi M.A.; Bowne S.J.; Sullivan L.S.; Daiger S.P.; Chen L.J.; Pang C.P.; Zhao K.; Staley J.P.; Larsson C.;
Am. J. Hum. Genet. 85:617-627(2009)
Cited for: VARIANT RP33 LEU-1087; TISSUE SPECIFICITY;

Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.
Benaglio P.; McGee T.L.; Capelli L.P.; Harper S.; Berson E.L.; Rivolta C.;
Hum. Mutat. 32:E2246-E2258(2011)
Cited for: VARIANTS RP33 CYS-681; HIS-681; LEU-683; CYS-689 AND LEU-1087;

Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.
Bowne S.J.; Sullivan L.S.; Avery C.E.; Sasser E.M.; Roorda A.; Duncan J.L.; Wheaton D.H.; Birch D.G.; Branham K.E.; Heckenlively J.R.; Sieving P.A.; Daiger S.P.;
Mol. Vis. 19:2407-2417(2013)
Cited for: VARIANTS RP33 VAL-542; CYS-681; HIS-681; SER-682 AND LEU-1087;

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.