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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P49747: Variant p.Gly299Arg

Cartilage oligomeric matrix protein
Gene: COMP
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Variant information Variant position: help 299
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Arginine (R) at position 299 (G299R, p.Gly299Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In PSACH.
Other resources: help


Sequence information Variant position: help 299
Protein sequence length: help 757
Location on the sequence: help KLRCPERQCRKDNCVTVPNS G QEDVDRDGIGDACDPDADGD
Residue conservation: help
Human                         KLRCPERQCRKDNCVTVPNSGQEDVDRDGIGDACDPDADGD

Mouse                         KLRCSERQCRKDNCVTVPNSGQEDVDRDGIGDACDPDADGD

Rat                           KLRCSERQCRKDNCVTVPNSGQEDVDRDRIGDACDPDADGD

Bovine                        KLRCSERQCRKDNCVTVPNSGQEDVDQDGIGDACDPDADGD

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 21 – 757 Cartilage oligomeric matrix protein
Repeat 268 – 300 TSP type-3 1
Region 298 – 503 Disordered
Disulfide bond 292 – 312



Literature citations
Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Jackson G.C.; Mittaz-Crettol L.; Taylor J.A.; Mortier G.R.; Spranger J.; Zabel B.; Le Merrer M.; Cormier-Daire V.; Hall C.M.; Offiah A.; Wright M.J.; Savarirayan R.; Nishimura G.; Ramsden S.C.; Elles R.; Bonafe L.; Superti-Furga A.; Unger S.; Zankl A.; Briggs M.D.;
Hum. Mutat. 33:144-157(2012)
Cited for: VARIANTS PSACH SER-234; GLY-290; ARG-299; TYR-326; 341-GLU-ASP-342 DEL; 350-ASN--ASP-372 DEL; VAL-378; ARG-387; 402-GLY--GLY-404 DELINS VAL-CYS; ARG-440; ASN-446; SER-448; ASP-473 DEL; HIS-473; ASN-475; GLY-482; GLY-507; GLY-511; GLY-515; ILE-529; ARG-585 AND SER-719; VARIANTS EDM1 GLU-167; ARG-276; LEU-298; ASP-311; GLY-317; GLY-326; PHE-348; SER-371; TYR-371; ASN-374; ASN-376; ASN-385; ASP-385 DEL; TYR-385; HIS-397; ARG-404; TYR-410; LYS-415; GLU-427; 430-CYS--SER-432 DELINS LEU-TRP-CYS; GLU-457 DEL; ASP-473 INS; ASP-501; LYS-523; MET-585; PRO-718 AND TRP-718; VARIANT ARG-756;
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.