Variant position: 179 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 QTSSGNRFMPQQNSPVPSPY APQSPAGYMPYSHPSSYTTHP
Mouse QTSSGNRFMPQQNSPVPSPY APQSPAGYMPYSHPSSYTTHP
Caenorhabditis elegans QQQQQQYLMQQQQ------- ------------QQQQLHHQQ
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
128 – 340 Disordered
162 – 162 Phosphoserine
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Braunholz D.; Hullings M.; Gil-Rodriguez M.C.; Fincher C.T.; Mallozzi M.B.; Loy E.; Albrecht M.; Kaur M.; Limon J.; Rampuria A.; Clark D.; Kline A.; Dalski A.; Eckhold J.; Tzschach A.; Hennekam R.; Gillessen-Kaesbach G.; Wierzba J.; Krantz I.D.; Deardorff M.A.; Kaiser F.J.;
Eur. J. Hum. Genet. 20:271-276(2012)
Cited for: VARIANTS CDLS1 ARG-15; GLN-29; THR-111; SER-179; THR-179; LEU-192; GLY-246 AND VAL-254; CHARACTERIZATION OF VARIANTS CDLS1 ARG-15; GLN-29; THR-111; SER-179; THR-179; LEU-192; GLY-246 AND VAL-254; INTERACTION WITH SCC4;
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.