Variant position: 859 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1647 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 AARRAFVPQLRSGKFNVLLT TYEYIIKDKHILAKIRWKYMI
Mouse AARRAFVPQLRSGKFNVLLT TYEYIIKDKHILAKIRWKYMI
Rat AARRAFVPQLRSGKFNVLLT TYEYIIKDKHILAKIRWKYMI
Bovine AARRAFVPQLRSGKFNVLLT TYEYIIKDKHILAKIRWKYMI
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
1 – 1647 Transcription activator BRG1
766 – 931 Helicase ATP-binding
837 – 916 Sufficient for interaction with DLX1
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Tsurusaki Y.; Okamoto N.; Ohashi H.; Kosho T.; Imai Y.; Hibi-Ko Y.; Kaname T.; Naritomi K.; Kawame H.; Wakui K.; Fukushima Y.; Homma T.; Kato M.; Hiraki Y.; Yamagata T.; Yano S.; Mizuno S.; Sakazume S.; Ishii T.; Nagai T.; Shiina M.; Ogata K.; Ohta T.; Niikawa N.; Miyatake S.; Okada I.; Mizuguchi T.; Doi H.; Saitsu H.; Miyake N.; Matsumoto N.;
Nat. Genet. 44:376-378(2012)
Cited for: VARIANTS CSS4 LYS-546 DEL; MET-859; CYS-885; PHE-921; THR-1011 AND GLY-1157;
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.