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UniProtKB/Swiss-Prot Q4KMG0: Variant p.Pro689Ala

Cell adhesion molecule-related/down-regulated by oncogenes
Gene: CDON
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Variant information Variant position: help 689
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Alanine (A) at position 689 (P689A, p.Pro689Ala).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to small size and hydrophobic (A)
BLOSUM score: help -1
Variant description: help In HPE11.
Other resources: help


Sequence information Variant position: help 689
Protein sequence length: help 1287
Location on the sequence: help LTFRTSKEKTASSKNTQASS P PVGIPKYPVVSEAANNNFGV
Residue conservation: help 
Human                         LTFRTSKEKTASSKNTQASSPPVGIPKYPVVSEAANNNFGV

Mouse                         LTFRTSKEKMASSKNTQASFPPVGVPKRPVTAEASNSNFGV

Rat                           LTFRTSKEKMASSKNTQASFPPVGIPKRPVTSEASNSNFGV

Xenopus laevis                LTFRTSKERTSSSKNTQAPFPPIGVPKQTIIHGVSNTNNGL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 26 – 1287 Cell adhesion molecule-related/down-regulated by oncogenes
Topological domain 26 – 963 Extracellular



Literature citations
Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.
Bae G.U.; Domene S.; Roessler E.; Schachter K.; Kang J.S.; Muenke M.; Krauss R.S.;
Am. J. Hum. Genet. 89:231-240(2011)
Cited for: VARIANTS HPE11 SER-684; ALA-689; MET-691; GLU-780; ALA-790 AND ARG-940;
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.