Variant position: 66 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 835 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 LTCGQCQMNFPLGDILIFIE HKRKQCNGSLCLEKAVDKPPS
Mouse LTCGQCQMNFPLGDILIFIE HKRKQCNGSLCLEKGVDKPPS
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 – 835 B-cell lymphoma/leukemia 11A
1 – 210 Required for nuclear body formation and for SUMO1 recruitment
86 – 86 Phosphoserine
BCL11A haploinsufficiency causes an intellectual disability syndrome and dysregulates transcription.
Dias C.; Estruch S.B.; Grmaham S.A.; McRae J.; Sawiak S.J.; Hurst J.A.; Joss S.K.; Holder S.E.; Morton J.E.; Turner C.; Thevenon J.; Mellul K.; Sanchez-Andrade G.; Ibarra-Soria X.; Deriziotis P.; Santos R.F.; Lee S.C.; Faivre L.; Kleefstra T.; Liu P.; Hurles M.E.; Fisher S.E.; Logan D.W.;
Am. J. Hum. Genet. 99:253-274(2016)
Cited for: INVOLVEMENT IN IDPFH; VARIANTS IDPFH PRO-47; PHE-48 AND GLN-66; CHARACTERIZATION OF VARIANTS IDPFH PRO-47; PHE-48 AND GLN-66; FUNCTION; SUBCELLULAR LOCATION;
Functional characterization of TBR1 variants in neurodevelopmental disorder.
den Hoed J.; Sollis E.; Venselaar H.; Estruch S.B.; Deriziotis P.; Fisher S.E.;
Sci. Rep. 8:14279-14279(2018)
Cited for: INTERACTION WITH TBR1; CHARACTERIZATION OF VARIANTS IDPFH PRO-47; PHE-48 AND GLN-66; DOMAIN;
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.