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UniProtKB/Swiss-Prot P25490: Variant p.Lys339Gln

Transcriptional repressor protein YY1
Gene: YY1
Variant information

Variant position:  339
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  US
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 Lysine (K) to Glutamine (Q) at position 339 (K339Q, p.Lys339Gln).
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 large size and basic (K) to medium size and polar (Q)
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:  In GADEVS; unknown pathological significance.
Any additional useful information about the variant.

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



Sequence information

Variant position:  339
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:   THGPRVHVCAECGKAFVESS  K LKRHQLVHTGEKPFQCTFEG
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                         THGPRVHVCAECGKAFVESSKLKRHQLVHTGEKPFQCTFEG

Mouse                         THGPRVHVCAECGKAFVESSKLKRHQLVHTGEKPFQCTFEG

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 325 – 347 C2H2-type 2
Region 257 – 341 Involved in nuclear matrix association
Region 295 – 414 Binding to DNA
Region 333 – 371 Involved in repression of activated transcription
Metal binding 320 – 320 Zinc 1
Metal binding 327 – 327 Zinc 2
Metal binding 330 – 330 Zinc 2
Metal binding 343 – 343 Zinc 2
Metal binding 347 – 347 Zinc 2
Metal binding 355 – 355 Zinc 3
Helix 337 – 343


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.