UniProtKB/Swiss-Prot P25490: Variant p.Thr372Arg

Transcriptional repressor protein YY1
Gene: YY1
Feedback?

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.

Variant rs386834266 [ dbSNP | Ensembl ]

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.

Type	Positions	Description
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
Binding site	355 – 355
Binding site	360 – 360
Binding site	373 – 373
Binding site	377 – 377
Binding site	385 – 385
Binding site	390 – 390
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.