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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13950: Variant p.Met175Arg

Runt-related transcription factor 2
Gene: RUNX2
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Variant information Variant position: help 175
Type of variant: help LP/P [Disclaimer]
Residue change: help From Methionine (M) to Arginine (R) at position 175 (M175R, p.Met175Arg).
Physico-chemical properties: help Change from medium size and hydrophobic (M) to large size and basic (R)
BLOSUM score: help -1
Variant description: help In CLCD1; abolishes DNA binding.
Other resources: help


Sequence information Variant position: help 175
Protein sequence length: help 521
Location on the sequence: help TVMAGNDENYSAELRNASAV M KNQVARFNDLRFVGRSGRGK
Residue conservation: help 
Human                         TVMAGNDENYSAELRNASAVMKNQVARFNDLRFVGRSGRGK

Mouse                         TVMAGNDENYSAELRNASAVMKNQVARFNDLRFVGRSGRGK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 521 Runt-related transcription factor 2
Domain 101 – 229 Runt



Literature citations
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia.
Lee B.; Thirunavukkarasu K.; Zhou L.; Pastore L.; Baldini A.; Hecht J.; Geoffroy V.; Ducy P.; Karsenty G.;
Nat. Genet. 16:307-310(1997)
Cited for: VARIANTS CLCD1 ARG-175 AND ASN-191; 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; 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.