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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13950: Variant p.Lys218Asn

Runt-related transcription factor 2
Gene: RUNX2
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Variant information Variant position: help 218
Type of variant: help LP/P [Disclaimer]
Residue change: help From Lysine (K) to Asparagine (N) at position 218 (K218N, p.Lys218Asn).
Physico-chemical properties: help Change from large size and basic (K) to medium size and polar (N)
BLOSUM score: help 0
Variant description: help In CLCD1; has severely impaired DNA binding and transactivation.
Other resources: help


Sequence information Variant position: help 218
Protein sequence length: help 521
Location on the sequence: help TLTITVFTNPPQVATYHRAI K VTVDGPREPRRHRQKLDDSK
Residue conservation: help 
Human                         TLTITVFTNPPQVATYHRAIKVTVDGPREPRRHRQKLDDSK

Mouse                         TLTITVFTNPPQVATYHRAIKVTVDGPREPRRHRQKLDDSK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 521 Runt-related transcription factor 2
Domain 101 – 229 Runt
Cross 238 – 238 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)



Literature citations
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;
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.