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 AND TRP-225; VARIANT SER-511;
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;
RUNX2 mutations in cleidocranial dysplasia patients.
Ryoo H.M.; Kang H.Y.; Lee S.K.; Lee K.E.; Kim J.W.;
Oral Dis. 16:55-60(2010)
Cited for: VARIANT CLCD TRP-225;
Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia.
Zhang X.; Liu Y.; Wang X.; Sun X.; Zhang C.; Zheng S.;
PLoS ONE 12:E0181653-E0181653(2017)
Cited for: VARIANTS CLCD 67-GLN--TYR-521 DEL; ARG-113; THR-186 AND TRP-225; CHARACTERIZATION OF VARIANTS CLCD 67-GLN--TYR-521 DEL; ARG-113; THR-186 AND TRP-225; FUNCTION; SUBCELLULAR LOCATION;
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