Sequence information
Variant position: 225 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:
TNPPQVATYHRAIKVTVDGP
R EPRRHRQKLDDSKPSLFSDR
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 TNPPQVATYHRAIKVTVDGPR EPRRHRQKLDDSKPSLFSDR
Mouse TNPPQVATYHRAIKVTVDGPR EPRRHRQKLDDSKPSLFSDR
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
Domain
101 – 229
Runt
Region
222 – 340
Disordered
Compositional bias
222 – 242
Basic and acidic residues
Cross
238 – 238
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Literature citations
Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.
Quack I.; Vonderstrass B.; Stock M.; Aylsworth A.S.; Becker A.; Brueton L.; Lee P.J.; Majewski F.; Mulliken J.B.; Suri M.; Zenker M.; Mundlos S.; Otto F.;
Am. J. Hum. Genet. 65:1268-1278(1999)
Cited for: VARIANTS CLCD1 ARG-113; ARG-118; CYS-121; ARG-123; ARG-205; GLN-225 AND TRP-225; VARIANT SER-511;
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.
Zhou G.; Chen Y.; Zhou L.; Thirunavukkarasu K.; Hecht J.; Chitayat D.; Gelb B.D.; Pirinen S.; Berry S.A.; Greenberg C.R.; Karsenty G.; Lee B.;
Hum. Mol. Genet. 8:2311-2316(1999)
Cited for: VARIANTS CLCD1 ASN-133 DEL; GLN-169; ARG-175; GLN-190; ASN-191; CYS-193; PHE-199; ALA-200; ARG-209 AND GLN-225;
Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations.
Yoshida T.; Kanegane H.; Osato M.; Yanagida M.; Miyawaki T.; Ito Y.; Shigesada K.;
Am. J. Hum. Genet. 71:724-738(2002)
Cited for: VARIANTS CLCD1 TRP-190; SER-197; ASN-218; ILE-220; TRP-225 AND GLN-225; CHARACTERIZATION OF VARIANTS CLCD1 TRP-190; SER-197; ASN-218; ILE-220; TRP-225 AND GLN-225;
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.
Otto F.; Kanegane H.; Mundlos S.;
Hum. Mutat. 19:209-216(2002)
Cited for: VARIANTS CLCD1 GLY-156; PRO-169; TRP-190; LYS-201; TRP-225; GLN-225 AND VAL-362;
Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype.
Kim H.-J.; Nam S.-H.; Kim H.-J.; Park H.-S.; Ryoo H.-M.; Kim S.-Y.; Cho T.-J.; Kim S.-G.; Bae S.-C.; Kim I.-S.; Stein J.L.; van Wijnen A.J.; Stein G.S.; Lian J.B.; Choi J.-Y.;
J. Cell. Physiol. 207:114-122(2006)
Cited for: VARIANTS CLCD1 GLY-131 AND GLN-225;
A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia.
Jung Y.J.; Bae H.S.; Ryoo H.M.; Baek S.H.;
J. Cell. Biochem. 119:1152-1162(2018)
Cited for: VARIANTS CLCD1 ARG-175; GLN-190; GLN-225 AND 462-GLY--TYR-521 DEL; CHARACTERIZATION OF VARIANT CLCD1 462-GLY--TYR-521 DEL; FUNCTION;
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.