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UniProtKB/Swiss-Prot P25490: Variant p.Leu366Pro

Transcriptional repressor protein YY1
Gene: YY1
Variant information

Variant position:  366
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Leucine (L) to Proline (P) at position 366 (L366P, p.Leu366Pro).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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

Involvement in disease:  Gabriele-de Vries syndrome (GADEVS) [MIM:617557]: An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability. Most patients have behavioral and feeding problems, movement abnormalities, mild distal skeletal anomalies, and dysmorphic facial features. {ECO:0000269|PubMed:21076407, ECO:0000269|PubMed:28575647}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In GADEVS; reduced DNA-binding; reduced transcription regulator activity.
Any additional useful information about the variant.

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



Sequence information

Variant position:  366
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:   VHTGEKPFQCTFEGCGKRFS  L DFNLRTHVRIHTGDRPYVCP
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                         VHTGEKPFQCTFEGCGKRFSLDFNLRTHVRIHTGDRPYVCP

Mouse                         VHTGEKPFQCTFEGCGKRFSLDFNLRTHVRIHTGDRPYVCP

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 333 – 371 Involved in repression of activated transcription
Metal binding 347 – 347 Zinc 2
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
Modified residue 378 – 378 Phosphothreonine


Literature citations

YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction.
Gabriele M.; Vulto-van Silfhout A.T.; Germain P.L.; Vitriolo A.; Kumar R.; Douglas E.; Haan E.; Kosaki K.; Takenouchi T.; Rauch A.; Steindl K.; Frengen E.; Misceo D.; Pedurupillay C.R.J.; Stromme P.; Rosenfeld J.A.; Shao Y.; Craigen W.J.; Schaaf C.P.; Rodriguez-Buritica D.; Farach L.; Friedman J.; Thulin P.; McLean S.D.; Nugent K.M.; Morton J.; Nicholl J.; Andrieux J.; Stray-Pedersen A.; Chambon P.; Patrier S.; Lynch S.A.; Kjaergaard S.; Toerring P.M.; Brasch-Andersen C.; Ronan A.; van Haeringen A.; Anderson P.J.; Powis Z.; Brunner H.G.; Pfundt R.; Schuurs-Hoeijmakers J.H.M.; van Bon B.W.M.; Lelieveld S.; Gilissen C.; Nillesen W.M.; Vissers L.E.L.M.; Gecz J.; Koolen D.A.; Testa G.; de Vries B.B.A.;
Am. J. Hum. Genet. 100:907-925(2017)
Cited for: VARIANTS GADEVS 179-LYS--GLN-414 DEL; TYR-320; GLN-339; 344-GLN--GLN-414 DEL; PRO-366; VAL-366; TYR-380 AND LYS-393 DEL; CHARACTERIZATION OF VARIANTS GADEVS PRO-366 AND TYR-380; 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.