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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14671: Variant p.Arg1137Trp

Pumilio homolog 1
Gene: PUM1
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Variant information Variant position: help 1137 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 Arginine (R) to Tryptophan (W) at position 1137 (R1137W, p.Arg1137Trp). 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 basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 SCA47; decreased post-transcriptional repression of E2F3 and ATXN1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1137 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1186 The length of the canonical sequence.
Location on the sequence: help KDQYANYVVQKMIDVAEPGQ R KIVMHKIRPHIATLRKYTYG 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.
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 – 1186 Pumilio homolog 1
Domain 828 – 1168 PUM-HD
Repeat 1103 – 1142 Pumilio 8
Helix 1134 – 1142



Literature citations
A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures.
Gennarino V.A.; Palmer E.E.; McDonell L.M.; Wang L.; Adamski C.J.; Koire A.; See L.; Chen C.A.; Schaaf C.P.; Rosenfeld J.A.; Panzer J.A.; Moog U.; Hao S.; Bye A.; Kirk E.P.; Stankiewicz P.; Breman A.M.; McBride A.; Kandula T.; Dubbs H.A.; Macintosh R.; Cardamone M.; Zhu Y.; Ying K.; Dias K.R.; Cho M.T.; Henderson L.B.; Baskin B.; Morris P.; Tao J.; Cowley M.J.; Dinger M.E.; Roscioli T.; Caluseriu O.; Suchowersky O.; Sachdev R.K.; Lichtarge O.; Tang J.; Boycott K.M.; Holder J.L. Jr.; Zoghbi H.Y.;
Cell 172:924-936(2018)
Cited for: FUNCTION; INVOLVEMENT IN SCA47; VARIANTS SCA47 SER-1033; TRP-1137 AND TRP-1145; CHARACTERIZATION OF VARIANTS SCA47 SER-1033; TRP-1137 AND TRP-1145;
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.