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UniProtKB/Swiss-Prot P25490: Variant p.Thr372Arg

Transcriptional repressor protein YY1
Gene: YY1
Variant information

Variant position:  372
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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:  From Threonine (T) to Arginine (R) at position 372 (T372R, p.Thr372Arg).
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 medium size and polar (T) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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:  Found in patients with late onset insulinomas; alters DNA-binding motif; increases transactivation activity; produces a constitutive activation of cAMP and Ca2+ signaling pathways involved in insulin secretion.
Any additional useful information about the variant.

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



Sequence information

Variant position:  372
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  414
The length of the canonical sequence.

Location on the sequence:   PFQCTFEGCGKRFSLDFNLR  T HVRIHTGDRPYVCPFDGCNK
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                         PFQCTFEGCGKRFSLDFNLRTHVRIHTGDRPYVCPFDGCNK

Mouse                         PFQCTFEGCGKRFSLDFNLRTHVRIHTGDRPYVCPFDGCNK

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 – 414 Transcriptional repressor protein YY1
Zinc finger 353 – 377 C2H2-type 3
Region 295 – 414 Binding to DNA
Region 371 – 397 Involved in masking transactivation domain
Metal binding 355 – 355 Zinc 3
Metal binding 360 – 360 Zinc 3
Metal binding 373 – 373 Zinc 3
Metal binding 377 – 377 Zinc 3
Metal binding 385 – 385 Zinc 4
Metal binding 390 – 390 Zinc 4
Modified residue 378 – 378 Phosphothreonine
Helix 367 – 378


Literature citations

Whole exome sequencing of insulinoma reveals recurrent T372R mutations in YY1.
Cao Y.; Gao Z.; Li L.; Jiang X.; Shan A.; Cai J.; Peng Y.; Li Y.; Jiang X.; Huang X.; Wang J.; Wei Q.; Qin G.; Zhao J.; Jin X.; Liu L.; Li Y.; Wang W.; Wang J.; Ning G.;
Nat. Commun. 4:2810-2810(2013)
Cited for: VARIANT ARG-372; CHARACTERIZATION OF VARIANT ARG-372; FUNCTION;

Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.
Cromer M.K.; Choi M.; Nelson-Williams C.; Fonseca A.L.; Kunstman J.W.; Korah R.M.; Overton J.D.; Mane S.; Kenney B.; Malchoff C.D.; Stalberg P.; Akerstroem G.; Westin G.; Hellman P.; Carling T.; Bjoerklund P.; Lifton R.P.;
Proc. Natl. Acad. Sci. U.S.A. 112:4062-4067(2015)
Cited for: VARIANT ARG-372; CHARACTERIZATION OF VARIANT ARG-372; FUNCTION;

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.