Variant position: 493 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1233 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 INKELNQVMEQLGDARIDRQ ESSRQQRKAEIMESIKRLYPG
Mouse INKELNQVMEQLGDARIDRQ ESSRQQRKAEIMESIKRLYPG
Rat INKELNQVMEQLGDARIDRQ ESSRQQRKAEIMESIKRLYPG
Bovine INKELNQVMEQLGDARIDRQ ESSRQQRKAEIMESIKRLYPG
Xenopus laevis INSELNQVMEQLGDARIDRQ ESSRQQRKAEIMESIKRLYPG
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 – 1233 Structural maintenance of chromosomes protein 1A
163 – 503
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
Musio A.; Selicorni A.; Focarelli M.L.; Gervasini C.; Milani D.; Russo S.; Vezzoni P.; Larizza L.;
Nat. Genet. 38:528-530(2006)
Cited for: VARIANTS CDLS2 ALA-493 AND GLN-832 DEL;
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
Revenkova E.; Focarelli M.L.; Susani L.; Paulis M.; Bassi M.T.; Mannini L.; Frattini A.; Delia D.; Krantz I.; Vezzoni P.; Jessberger R.; Musio A.;
Hum. Mol. Genet. 18:418-427(2009)
Cited for: CHARACTERIZATION OF VARIANTS CDLS2 ALA-493; CYS-496 AND HIS-496; GENOMIC INSTABILITY OF CDLS CELL LINES TO IONIZING RADIATION;
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.