Sequence information
Variant position: 2298 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:
IMQLYLKQVLEAFFHTQSSV
R HFALNVIALTLNQGLIHPVQ
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 IMQLYLKQVLEAFFHTQSSVR HFALNVIALTLNQGLIHPVQ
Mouse IMQLYLKQVLEAFFHTQSSVR HFALNVIALTLNQGLIHPVQ
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 – 2804
Nipped-B-like protein
Alternative sequence
1102 – 2804
Missing. In isoform 3.
Literature citations
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;
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;
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.