Variant position: 169 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 PDGTVVTVMAGNDENYSAEL RNASAVMKNQVARFNDLRFVG
Mouse PDGTVVTVMAGNDENYSAEL RNASAVMKNQVARFNDLRFVG
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
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia.
Morava E.; Karteszi J.; Weisenbach J.; Caliebe A.; Mundlos S.; Mehes K.;
Eur. J. Pediatr. 161:619-622(2002)
Cited for: VARIANT CLCD PRO-169;
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;
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.