Variant position: 1206 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 PKLTPEEMMDSSTFKRFTAS IENILDNLEDMDFTAFGDDDE
Mouse PKLTPEEMMDSSTFKRFTAS IENILDNLEDMDFTAFGDDDE
Caenorhabditis elegans -----EEM------------ -------------------DE
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.
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
Gillis L.A.; McCallum J.; Kaur M.; DeScipio C.; Yaeger D.; Mariani A.; Kline A.D.; Li H.; Devoto M.; Jackson L.G.; Krantz I.D.;
Am. J. Hum. Genet. 75:610-623(2004)
Cited for: VARIANTS CDLS1 GLY-1246; PRO-1312; LEU-1789; VAL-1803; THR-1856; CYS-2298; HIS-2298; ARG-2312; ALA-2381; THR-2390 AND HIS-2440; VARIANTS SER-674 AND VAL-1206;
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.