Variant position: 1207 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2804 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 KLTPEEMMDSSTFKRFTASI ENILDNLEDMDFTAFGDDDEI
Mouse KLTPEEMMDSSTFKRFTASI ENILDNLEDMDFTAFGDDDEI
Caenorhabditis elegans ----EEM------------- ------------------DEI
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 – 2804 Nipped-B-like protein
1189 – 1189 Phosphothreonine
1197 – 1197 Phosphoserine
1102 – 2804 Missing. In isoform 3.
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.
Kuzniacka A.; Wierzba J.; Ratajska M.; Lipska B.S.; Koczkowska M.; Malinowska M.; Limon J.;
J. Appl. Genet. 54:27-33(2013)
Cited for: VARIANTS CDLS1 ILE-70; SER-179; GLY-246; THR-351; ASN-357; GLN-868; LYS-1207; LEU-1441; PHE-1625; LEU-1637; HIS-1722; ASN-2218 DEL; CYS-2298; VAL-2312 AND ASN-2433;
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.