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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96SW2: Variant p.Cys391Arg

Protein cereblon
Gene: CRBN
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Variant information Variant position: help 391 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 Cysteine (C) to Arginine (R) at position 391 (C391R, p.Cys391Arg). 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 (C) to large size and basic (R) 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 MRT2. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 391 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 442 The length of the canonical sequence.
Location on the sequence: help IGRPSTEHSWFPGYAWTVAQ C KICASHIGWKFTATKKDMSP 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                         IGRPSTEHSWFPGYAWTVAQCKICASHIGWKFTATKKDMSP

Mouse                         IGRPSTVHSWFPGYAWTIAQCKICASHIGWKFTATKKDMSP

Rat                           IGRPSTVHSWFPGYAWTIAQCKICASHIGWKFTATKKDMSP

Bovine                        IGRPSTDHSWFPGYAWTIAQCRICASHIGWKFTATKKDMSP

Chicken                       SGRPSTEHSWFPGYAWTIAQCRICGNHMGWKFTATKKDMSP

Xenopus tropicalis            VGRPSTENSWFPGFAWTIAQCRVCGSHMGWKFTAVRKDLSP

Zebrafish                     IGRPSTLHSWFPGYAWTIAQCRTCSSHMGWKFSAVKKDLSP

Drosophila                    SGEPSTKFSWFPGYQWHIILCKFCAQHVGWEFKAVHPNLTP
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 – 442 Protein cereblon
Domain 318 – 426 CULT
Binding site 378 – 378
Binding site 380 – 380
Binding site 386 – 386
Binding site 391 – 391
Binding site 394 – 394
Mutagenesis 384 – 384 Y -> A. Abolishes thalidomide-binding without affecting DCX protein ligase complex activity; when associated with A-386.
Mutagenesis 386 – 386 W -> A. Abolishes thalidomide-binding without affecting DCX protein ligase complex activity; when associated with A-384. Abolishes pomalidomide-induced change in substrate specificity and abolishes pomalidomide-induced decrease in cell viability that is brought about by increased degradation of MYC, IRF4 and IKZF3.
Beta strand 384 – 391



Literature citations
A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family.
Sheereen A.; Alaamery M.; Bawazeer S.; Al Yafee Y.; Massadeh S.; Eyaid W.;
J. Med. Genet. 54:236-240(2017)
Cited for: INVOLVEMENT IN MRT2; VARIANT MRT2 ARG-391;
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.