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:
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 TNPPQVATYHRAIKVTVDGP REPRRHRQKLDDSKPSLFSDR
Mouse TNPPQVATYHRAIKVTVDGP REPRRHRQKLDDSKPSLFSDR
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 – 521 Runt-related transcription factor 2
101 – 229 Runt
238 – 238 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
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 CLCD ARG-113; ARG-118; CYS-121; ARG-123; ARG-205; GLN-225; TRP-225 AND 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 CLCD 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 CLCD TRP-190; SER-197; ASN-218; ILE-220; TRP-225 AND GLN-225; CHARACTERIZATION OF VARIANTS CLCD 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 CLCD 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 CLCD 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 CLCD ARG-175; GLN-190; GLN-225 AND 462-GLY--TYR-521 DEL; CHARACTERIZATION OF VARIANT CLCD 462-GLY--TYR-521 DEL; FUNCTION;
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