Sequence information
Variant position: 377 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 385 The length of the canonical sequence.
Location on the sequence:
TDAEMEKKIRDQDRNTRRMR
R LANTAPAW
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 TDAEMEKKIRDQDRNTRRMRR ----------------------------------------------------------------------------------------------------------------------------------------------------------------LANTA----------------PAW---------------------------------------------------------------------------------
Mouse TDAEMEKKIRDQDRNTRRMRR --------
Bovine TDAEMEKKIRDQDRNTRRMRR --------
Chicken TDAEMEKKIRDQDRNTRRMRR --------
Xenopus laevis TDAEMEKKIRDQDRNTRRMRR --------
Xenopus tropicalis TDAEMEKKIRDQDRNTRRMRR --------
Zebrafish TDAEMEKKIRDQDRNTRRMRR --------
Caenorhabditis elegans YIYGF-RNVRDDITEVVGHAR --------
Baker's yeast SAAELERLDKDKDRDTRRKRR QGRSNRRG
Fission yeast NDAEMERQDRGYDREARRMRR RQGRAKHG
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
Chain
1 – 385
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1
Literature citations
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 CSS3 LYS-364 DEL AND HIS-377;
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.