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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9P2R6: Variant p.Val471Ile

Arginine-glutamic acid dipeptide repeats protein
Gene: RERE
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Variant information Variant position: help 471 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Valine (V) to Isoleucine (I) at position 471 (V471I, p.Val471Ile). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 NEDBEH; uncertain significance. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 471 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1566 The length of the canonical sequence.
Location on the sequence: help RRHRRQAVFRRIKTRTASTP V NTPSRPPSSEFLDLSSASED 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                         RRHRRQAVFRRIKTRTASTPVNTPSRPPSSEFLDLSSASED

Mouse                         RRHRRQAVFRRIKTRTASTPVNTPSRPPSSEFLDLSSASED

Rat                           RRHRRQAVFRRIKTRTASTPVNTPSRPPSSEFLDLSSASED

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 – 1566 Arginine-glutamic acid dipeptide repeats protein
Region 464 – 495 Disordered
Compositional bias 464 – 486 Polar residues
Alternative sequence 1 – 554 Missing. In isoform 2.



Literature citations
De novo mutations of RERE cause a genetic syndrome with features that overlap those associated with proximal 1p36 deletions.
Fregeau B.; Kim B.J.; Hernandez-Garcia A.; Jordan V.K.; Cho M.T.; Schnur R.E.; Monaghan K.G.; Juusola J.; Rosenfeld J.A.; Bhoj E.; Zackai E.H.; Sacharow S.; Baranano K.; Bosch D.G.; de Vries B.B.; Lindstrom K.; Schroeder A.; James P.; Kulch P.; Lalani S.R.; van Haelst M.M.; van Gassen K.L.; van Binsbergen E.; Barkovich A.J.; Scott D.A.; Sherr E.H.;
Am. J. Hum. Genet. 98:963-970(2016)
Cited for: INVOLVEMENT IN NEDBEH; VARIANTS NEDBEH ILE-471; ARG-1156; ARG-1262 AND GLN-1431; CHARACTERIZATION OF VARIANT NEDBEH ARG-1156;
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.