Variant position: 330 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 391 The length of the canonical sequence.
Location on the sequence:
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 TPVMMAAVKTYRWQCIECKC CNICGTSENDDQLLFCDDCDR
Mouse TPVMMAAVKTYRWQCIECKC CNLCGTSENDDQLLFCDDCDR
Chicken TPVMMAAVKTYRWQCIECKC CNICGTSENDDQLLFCDDCDR
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.
Type Positions Description
2 – 391 Zinc finger protein ubi-d4
270 – 330 PHD-type 1
327 – 377 PHD-type 2
156 – 339 Missing. In isoform 2.
346 – 346 D -> A. Strongly decreased interaction with histones H3 and H4 and loss of function; when associated with A-275 and A-300.
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;
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.