Variant position: 391 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 442 The length of the canonical sequence.
Location on the sequence:
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 IGRPSTEHSWFPGYAWTVAQ CKICASHIGWKFTATKKDMSP
Mouse IGRPSTVHSWFPGYAWTIAQ CKICASHIGWKFTATKKDMSP
Rat IGRPSTVHSWFPGYAWTIAQ CKICASHIGWKFTATKKDMSP
Bovine IGRPSTDHSWFPGYAWTIAQ CRICASHIGWKFTATKKDMSP
Chicken SGRPSTEHSWFPGYAWTIAQ CRICGNHMGWKFTATKKDMSP
Xenopus tropicalis VGRPSTENSWFPGFAWTIAQ CRVCGSHMGWKFTAVRKDLSP
Zebrafish IGRPSTLHSWFPGYAWTIAQ CRTCSSHMGWKFSAVKKDLSP
Drosophila SGEPSTKFSWFPGYQWHIIL CKFCAQHVGWEFKAVHPNLTP
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.
Type Positions Description
1 – 442 Protein cereblon
318 – 426 CULT
391 – 391 Zinc
394 – 394 Zinc
384 – 384 Y -> A. Abolishes thalidomide-binding without affecting DCX protein ligase complex activity; when associated with A-386.
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.
384 – 391
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 MRT2A; VARIANT MRT2A ARG-391;
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.