Variant position: 370 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1214 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 HVVCALWIPEVCFANTVFLE PIDSIEHIPPARWKLTCYICK
Mouse HVVCALWIPEVCFANTVFLE PIDSIEHIPPARWKLTCYICK
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.
Mutations in the chromatin regulator gene BRPF1 cause syndromic intellectual disability and deficient histone acetylation.
Yan K.; Rousseau J.; Littlejohn R.O.; Kiss C.; Lehman A.; Rosenfeld J.A.; Stumpel C.T.; Stegmann A.P.; Robak L.; Scaglia F.; Nguyen T.T.; Fu H.; Ajeawung N.F.; Camurri M.V.; Li L.; Gardham A.; Panis B.; Almannai M.; Sacoto M.J.; Baskin B.; Ruivenkamp C.; Xia F.; Bi W.; Cho M.T.; Potjer T.P.; Santen G.W.; Parker M.J.; Canham N.; McKinnon M.; Potocki L.; MacKenzie J.J.; Roeder E.R.; Campeau P.M.; Yang X.J.;
Am. J. Hum. Genet. 100:91-104(2017)
Cited for: INVOLVEMENT IN IDDDFP; VARIANTS IDDDFP SER-370; 455-ARG--ASP-1214 DEL; 833-GLY--ASP-1214 DEL AND 1100-PRO--ASP-1214 DEL; CHARACTERIZATION OF VARIANTS IDDDFP SER-370; 455-ARG--ASP-1214 DEL; 833-GLY--ASP-1214 DEL AND 1100-PRO--ASP-1214 DEL; FUNCTION; SUBUNIT; INTERACTION WITH KAT7; SUBCELLULAR LOCATION;
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.