Sequence information
Variant position: 982 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1608 The length of the canonical sequence.
Location on the sequence:
KIIQLTPVPVSTPSGLVPPL
S PATLPGPTSQPQKVLLPSST
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 KIIQLTPVPV----STPSGLVPPLS PATLPGPTS-----QPQKVLLPSST
Mouse KIIQLTPVPV----STPSGLVPPLS PATMPGPTS-----QP
Drosophila TMLLITDVNAYNQQHVAGNAATPVS GAATLRPVSFISINAC
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 – 1608
Protein capicua homolog
Literature citations
CIC, a member of a novel subfamily of the HMG-box superfamily, is transiently expressed in developing granule neurons.
Lee C.-J.; Chan W.-I.; Cheung M.; Cheng Y.-C.; Appleby V.J.; Orme A.T.; Scotting P.J.;
Brain Res. Mol. Brain Res. 106:151-156(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; POSSIBLE FUNCTION; VARIANT GLY-982;
Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
Nagase T.; Ishikawa K.; Nakajima D.; Ohira M.; Seki N.; Miyajima N.; Tanaka A.; Kotani H.; Nomura N.; Ohara O.;
DNA Res. 4:141-150(1997)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 158-1608; VARIANT GLY-982;
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.