UniProtKB/SwissProt variant VAR

Transcriptional repressor protein YY1
Gene: YY1
Feedback?

Variant information Variant position:

372
Type of variant:

LB/B
Residue change:

From Threonine (T) to Arginine (R) at position 372 (T372R, p.Thr372Arg).
Physico-chemical properties:

Change from medium size and polar (T) to large size and basic (R)
BLOSUM score:

-1
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.
Other resources:

Variant rs386834266 [ dbSNP | Ensembl ]

Sequence information Variant position:

372
Protein sequence length:

414
Location on the sequence:

PFQCTFEGCGKRFSLDFNLR T HVRIHTGDRPYVCPFDGCNK
Residue conservation:

Human                         PFQCTFEGCGKRFSLDFNLRTHVRIHTGDRPYVCPFDGCNK

Mouse                         PFQCTFEGCGKRFSLDFNLRTHVRIHTGDRPYVCPFDGCNK

Sequence annotation in neighborhood:

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P25490: Variant p.Thr372Arg