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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92785: Variant p.Cys276Phe

Zinc finger protein ubi-d4
Gene: DPF2
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Variant information Variant position: help 276 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Cysteine (C) to Phenylalanine (F) at position 276 (C276F, p.Cys276Phe). 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: help Change from medium size and polar (C) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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: help In CSS7; abolishes interaction with acetylated or methylated histone H3. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 276 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 391 The length of the canonical sequence.
Location on the sequence: help EQKSKKGPDGLALPNNYCDF C LGDSKINKKTGQPEELVSCS 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         EQKSKKGPDGLALPNNYCDFCLGDSKINKKTGQPEELVSCS

Mouse                         EQKSKKGPDGLALPNNYCDFCLGDSKINKKTGQPEELVSCS

Chicken                       EQKSKKGPDGLALPNNYCDFCLGDSKINKKTGQPEELVSCS

Sequence annotation in neighborhood: help 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 2 – 391 Zinc finger protein ubi-d4
Zinc finger 270 – 330 PHD-type 1
Modified residue 280 – 280 Phosphoserine
Cross 281 – 281 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Alternative sequence 156 – 339 Missing. In isoform 2.
Mutagenesis 275 – 275 F -> A. Strongly decreased interaction with histones H3 and H4 and loss of function; when associated with A-300 and A-346.
Turn 274 – 276



Literature citations
Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome.
Vasileiou G.; Vergarajauregui S.; Endele S.; Popp B.; Buettner C.; Ekici A.B.; Gerard M.; Bramswig N.C.; Albrecht B.; Clayton-Smith J.; Morton J.; Tomkins S.; Low K.; Weber A.; Wenzel M.; Altmueller J.; Li Y.; Wollnik B.; Hoganson G.; Plona M.R.; Cho M.T.; Thiel C.T.; Luedecke H.J.; Strom T.M.; Calpena E.; Wilkie A.O.M.; Wieczorek D.; Engel F.B.; Reis A.;
Am. J. Hum. Genet. 102:468-479(2018)
Cited for: SUBUNIT; SUBCELLULAR LOCATION; INVOLVEMENT IN CSS7; VARIANTS CSS7 PHE-276; TRP-330; GLY-346; HIS-350 AND ARG-369; CHARACTERIZATION OF VARIANTS CSS7 PHE-276; TRP-330 AND HIS-350;
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.