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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13950: Variant p.Gln209Arg

Runt-related transcription factor 2
Gene: RUNX2
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Variant information Variant position: help 209
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamine (Q) to Arginine (R) at position 209 (Q209R, p.Gln209Arg).
Physico-chemical properties: help Change from medium size and polar (Q) to large size and basic (R)
BLOSUM score: help 1
Variant description: help In CLCD1.


Sequence information Variant position: help 209
Protein sequence length: help 521
Location on the sequence: help GRSGRGKSFTLTITVFTNPP Q VATYHRAIKVTVDGPREPRR
Residue conservation: help 
Human                         GRSGRGKSFTLTITVFTNPPQVATYHRAIKVTVDGPREPRR

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



Literature citations
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;
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.