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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P25490: Variant p.Thr372Arg

Transcriptional repressor protein YY1
Gene: YY1
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Variant information Variant position: help 372
Type of variant: help LB/B
Residue change: help From Threonine (T) to Arginine (R) at position 372 (T372R, p.Thr372Arg).
Physico-chemical properties: help Change from medium size and polar (T) to large size and basic (R)
BLOSUM score: help -1
Variant description: help 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: help


Sequence information Variant position: help 372
Protein sequence length: help 414
Location on the sequence: help PFQCTFEGCGKRFSLDFNLR T HVRIHTGDRPYVCPFDGCNK
Residue conservation: help
Human                         PFQCTFEGCGKRFSLDFNLRTHVRIHTGDRPYVCPFDGCNK

Mouse                         PFQCTFEGCGKRFSLDFNLRTHVRIHTGDRPYVCPFDGCNK

Sequence annotation in neighborhood: help
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
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.