Variant position: 1127 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1912 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 EAIDRFNAPGAQQFCFLLST RAGGLGINLATADTVIIYDSD
Mouse EAIDRFNAPGAQQFCFLLST RAGGLGINLATADTVIIYDSD
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.
De novo mutations in CHD4, an ATP-dependent chromatin remodeler gene, cause an intellectual disability syndrome with distinctive dysmorphisms.
Weiss K.; Terhal P.A.; Cohen L.; Bruccoleri M.; Irving M.; Martinez A.F.; Rosenfeld J.A.; Machol K.; Yang Y.; Liu P.; Walkiewicz M.; Beuten J.; Gomez-Ospina N.; Haude K.; Fong C.T.; Enns G.M.; Bernstein J.A.; Fan J.; Gotway G.; Ghorbani M.; van Gassen K.; Monroe G.R.; van Haaften G.; Basel-Vanagaite L.; Yang X.J.; Campeau P.M.; Muenke M.;
Am. J. Hum. Genet. 99:934-941(2016)
Cited for: SUBCELLULAR LOCATION; INTERACTION WITH HDAC1; INVOLVEMENT IN SIHIWES; VARIANTS SIHIWES ASP-1003; GLN-1127; LEU-1148 AND LEU-1173; CHARACTERIZATION OF VARIANTS SIHIWES GLN-1127 AND LEU-1173;
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.