Sequence information
Variant position: 287 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 521 The length of the canonical sequence.
Location on the sequence:
RPSLNSAPSPFNPQGQSQIT
D PRQAQSSPPWSYDQSYPSYL
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 RPSLNSAPSPFNPQGQSQITD PRQAQSSPPWSYDQSYPSYL
Mouse RPSLNSAPSPFNPQGQSQITD PRQAQSSPPWSYDQSYPSYL
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 – 521
Runt-related transcription factor 2
Region
222 – 340
Disordered
Compositional bias
274 – 329
Polar residues
Modified residue
267 – 267
Asymmetric dimethylarginine
Literature citations
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Ott C.E.; Leschik G.; Trotier F.; Brueton L.; Brunner H.G.; Brussel W.; Guillen-Navarro E.; Haase C.; Kohlhase J.; Kotzot D.; Lane A.; Lee-Kirsch M.A.; Morlot S.; Simon M.E.H.; Steichen-Gersdorf E.; Tegay D.H.; Peters H.; Mundlos S.; Klopocki E.;
Hum. Mutat. 31:E1587-E1593(2010)
Cited for: VARIANTS CLCD1 ASN-118; SER-131; CYS-131; PRO-136; ASP-156; VAL-175; LYS-175; SER-187; GLN-193; ILE-200; HIS-209; PRO-211; GLN-218; GLU-218; LEU-225; GLY-228; ARG-233; ASN-287 AND ASN-420;
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.