Variant position: 116 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 341 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 LFSGTQISTIAESEDSQESV DSVTDSQKRREILSRRPSYRK
Mouse LFSGTQISTIAESEDSQESV DSVTDSQKRREILSRRPSYRK
Rat LFSGTQISTIAESEDSQESV DSVTDSQKRREILSRRPSYRK
Bovine ------ISTIAESEDSQESV DSVTDSQKRREILSRRPSYRK
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 – 341 Cyclic AMP-responsive element-binding protein 1
101 – 160 KID
133 – 133 Phosphoserine; by CaMK1, CaMK2, CaMK4, PKB/AKT1 or PKB/AKT2, RPS6KA3, RPS6KA4, RPS6KA5, SGK1 and TSSK4
136 – 136 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
133 – 133 S -> A. Does not interact with TOX3 and inhibits induction of transcription by TOX3. Loss of phosphorylation by CaMK4. Loss of phosphorylation by TSSK4.
A p.D116G mutation in CREB1 leads to novel multiple malformation syndrome resembling CrebA knockout mouse.
Kitazawa S.; Kondo T.; Mori K.; Yokoyama N.; Matsuo M.; Kitazawa R.;
Hum. Mutat. 33:651-654(2012)
Cited for: POSSIBLE INVOLVEMENT IN MULTIPLE CONGENITAL ANOMALIES; VARIANT GLY-116; CHARACTERIZATION OF VARIANT GLY-116;
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.