PRO Term |
GO Annotation |
Evidence |
PR:000000231 hCOMP/var:P276R UniProtKB:P49747, Pro-276, CHEBI:29952 | UniProtKB:P49747-1, Pro-276, CHEBI:29952 | cartilage oligomeric matrix protein sequence variant 1 (human) |
associated_with_disease_progression | DO:12721 multiple epiphyseal dysplasia |
PMID:11565064 |
PR:000000232 hCOMP/var:C387G UniProtKB:P49747, Cys-387, CHEBI:29947 | UniProtKB:P49747-1, Cys-387, CHEBI:29947 | cartilage oligomeric matrix protein sequence variant 10 (human) |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007625 |
PR:000000233 hCOMP/var:D408Y UniProtKB:P49747, Asp-408, CHEBI:46858 | UniProtKB:P49747-1, Asp-408, CHEBI:46858 | cartilage oligomeric matrix protein sequence variant 11 (human) |
associated_with_disease_progression | DO:12721 multiple epiphyseal dysplasia |
PMID:9452026 |
PR:000000234 hCOMP/var:D420A UniProtKB:P49747, Asp-420, CHEBI:46217 | UniProtKB:P49747-1, Asp-420, CHEBI:46217 | cartilage oligomeric matrix protein sequence variant 12 (human) |
associated_with_disease_progression | DO:12721 multiple epiphyseal dysplasia |
PMID:11565064 |
PR:000000235 hCOMP/var:G440E UniProtKB:P49747, Gly-440, CHEBI:29972 | UniProtKB:P49747-1, Gly-440, CHEBI:29972 | cartilage oligomeric matrix protein sequence variant 13 (human) |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007628 |
PR:000000236 hCOMP/var:G440R UniProtKB:P49747, Gly-440, CHEBI:29952 | UniProtKB:P49747-1, Gly-440, CHEBI:29952 | cartilage oligomeric matrix protein sequence variant 14 (human) |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
PMID:9452026 |
PR:000000237 hCOMP/var:N453S UniProtKB:P49747, Asn-453, CHEBI:29999 | UniProtKB:P49747-1, Asn-453, CHEBI:29999 | cartilage oligomeric matrix protein sequence variant 15 (human) |
associated_with_disease_progression | DO:12721 multiple epiphyseal dysplasia |
UniProtKB_VAR:VAR_007630 |
PR:000000238 hCOMP/var:D439V UniProtKB:P49747, Asp-439, CHEBI:30015 | UniProtKB:P49747-1, Asp-439, CHEBI:30015 | cartilage oligomeric matrix protein sequence variant 16 (human) |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007618 |
PR:000000239 hCOMP/var:C468Y UniProtKB:P49747, Cys-468, CHEBI:46858 | UniProtKB:P49747-1, Cys-468, CHEBI:46858 | cartilage oligomeric matrix protein sequence variant 17 (human) |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
PMID:7670471; PMID:9452026 |
PR:000000240 hCOMP/var:D472Y UniProtKB:P49747, Asp-472, CHEBI:46858 | UniProtKB:P49747-1, Asp-472, CHEBI:46858 | cartilage oligomeric matrix protein sequence variant 18 (human) |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
PMID:7670471; PMID:9452026 |
PR:000000241 hCOMP/var:D473G UniProtKB:P49747, Asp-473, CHEBI:29947 | UniProtKB:P49747-1, Asp-473, CHEBI:29947 | cartilage oligomeric matrix protein sequence variant 19 (human) |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007635 |
PR:000000242 hCOMP/var:D290N UniProtKB:P49747, Asp-290, CHEBI:50347 | UniProtKB:P49747-1, Asp-290, CHEBI:50347 | cartilage oligomeric matrix protein sequence variant 2 (human) |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007614 |
PR:000000243 hCOMP/var:D482G UniProtKB:P49747, Asp-482, CHEBI:29947 | UniProtKB:P49747-1, Asp-482, CHEBI:29947 | cartilage oligomeric matrix protein sequence variant 20 (human) |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
PMID:9452063 |
PR:000000244 hCOMP/var:D518N UniProtKB:P49747, Asp-518, CHEBI:50347 | UniProtKB:P49747-1, Asp-518, CHEBI:50347 | cartilage oligomeric matrix protein sequence variant 21 (human) |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007639 |
PR:000000245 hCOMP/var:G719D UniProtKB:P49747, Gly-719, CHEBI:29958 | UniProtKB:P49747-1, Gly-719, CHEBI:29958 | cartilage oligomeric matrix protein sequence variant 22 (human) |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
PMID:11746044 |
PR:000000246 hCOMP/var:N523K UniProtKB:P49747, Asn-523, CHEBI:29967 | UniProtKB:P49747-1, Asn-523, CHEBI:29967 | cartilage oligomeric matrix protein sequence variant 23 (human) |
associated_with_disease_progression | DO:12721 multiple epiphyseal dysplasia |
PMID:9021009 |
PR:000000247 hCOMP/var:T585M UniProtKB:P49747, Thr-585, CHEBI:16044 | UniProtKB:P49747-1, Thr-585, CHEBI:16044 | cartilage oligomeric matrix protein sequence variant 24 (human) |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
PMID:11565064 |
DO:12721 multiple epiphyseal dysplasia |
PMID:11565064 |
PR:000000248 hCOMP/var:T585R UniProtKB:P49747, Thr-585, CHEBI:29952 | UniProtKB:P49747-1, Thr-585, CHEBI:29952 | cartilage oligomeric matrix protein sequence variant 25 (human) |
associated_with_disease_progression | DO:12721 multiple epiphyseal dysplasia |
UniProtKB_VAR:VAR_007642 |
PR:000000249 hCOMP/var:26
|
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007626 |
PR:000000250 hCOMP/var:D372del UniProtKB:P49747, 21-371, 373-757 | UniProtKB:P49747-1, 21-371, 373-757 | cartilage oligomeric matrix protein sequence variant 27 (human) |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007623 |
PR:000000251 hCOMP/var:D374del UniProtKB:P49747, 21-373, 375-757 | UniProtKB:P49747-1, 21-373, 375-757 | cartilage oligomeric matrix protein sequence variant 28 (human) |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007624 |
PR:000000252 hCOMP/var:S459del UniProtKB:P49747, 21-458, 460-757 | UniProtKB:P49747-1, 21-458, 460-757 | cartilage oligomeric matrix protein sequence variant 29 (human) |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007631 |
PR:000000253 hCOMP/var:G299R UniProtKB:P49747, Gly-299, CHEBI:29952 | UniProtKB:P49747-1, Gly-299, CHEBI:29952 | cartilage oligomeric matrix protein sequence variant 3 (human) |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007615 |
PR:000000254 hCOMP/var:D469del UniProtKB:P49747, 21-468, 470-757 | UniProtKB:P49747-1, 21-468, 470-757 | cartilage oligomeric matrix protein sequence variant 30 (human) |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007633 |
PR:000000255 hCOMP/var:D473del UniProtKB:P49747, 21-472, 474-757 | UniProtKB:P49747-1, 21-472, 474-757 | cartilage oligomeric matrix protein sequence variant 31 (human) |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007636 |
PR:000000256 hCOMP/var:32 UniProtKB:P49747, 21-366, 369-757 | UniProtKB:P49747-1, 21-366, 369-757 |
associated_with_disease_progression | DO:12721 multiple epiphyseal dysplasia |
UniProtKB_VAR:VAR_007621 |
PR:000000257 hCOMP/var:33 UniProtKB:P49747, 21-512, 517-757 | UniProtKB:P49747-1, 21-512, 517-757 |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007638 |
PR:000000258 hCOMP/var:C328R UniProtKB:P49747, Cys-328, CHEBI:29952 | UniProtKB:P49747-1, Cys-328, CHEBI:29952 | cartilage oligomeric matrix protein sequence variant 4 (human) |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
UniProtKB_VAR:VAR_007616 |
PR:000000259 hCOMP/var:D342Y UniProtKB:P49747, Asp-342, CHEBI:46858 | UniProtKB:P49747-1, Asp-342, CHEBI:46858 | cartilage oligomeric matrix protein sequence variant 5 (human) |
associated_with_disease_progression | DO:12721 multiple epiphyseal dysplasia |
PMID:7670472; PMID:9452026 |
PR:000000260 hCOMP/var:C348R UniProtKB:P49747, Cys-348, CHEBI:29952 | UniProtKB:P49747-1, Cys-348, CHEBI:29952 | cartilage oligomeric matrix protein sequence variant 6 (human) |
associated_with_disease_progression | DO:0080047 pseudoachondroplasia |
PMID:11746045 |
PR:000000261 hCOMP/var:D361V UniProtKB:P49747, Asp-361, CHEBI:30015 | UniProtKB:P49747-1, Asp-361, CHEBI:30015 | cartilage oligomeric matrix protein sequence variant 7 (human) |
associated_with_disease_progression | DO:12721 multiple epiphyseal dysplasia |
UniProtKB_VAR:VAR_007619 |
PR:000000262 hCOMP/var:D361Y UniProtKB:P49747, Asp-361, CHEBI:46858 | UniProtKB:P49747-1, Asp-361, CHEBI:46858 | cartilage oligomeric matrix protein sequence variant 8 (human) |
associated_with_disease_progression | DO:12721 multiple epiphyseal dysplasia |
PMID:9452026 |
PR:000000263 hCOMP/var:C371S UniProtKB:P49747, Cys-371, CHEBI:29999 | UniProtKB:P49747-1, Cys-371, CHEBI:29999 | cartilage oligomeric matrix protein sequence variant 9 (human) |
associated_with_disease_progression | DO:12721 multiple epiphyseal dysplasia |
PMID:9184241 |
PR:000036452 hCOMP/iso:1/SigPep- UniProtKB:P49747-1, 21-757 | PRO_0000035857 |
acts_upstream_of_or_within | GO:0009887 animal organ morphogenesis |
PMID:7713493 |
enables | GO:0005201 extracellular matrix structural constituent |
PMID:9749943 |
GO:0005509 calcium ion binding |
PMID:7670472 |
located_in | GO:0031012 extracellular matrix |
PMID:9749943 |
PR:P49747-1 hCOMP/iso:1
|
acts_upstream_of_or_within | GO:0001501 skeletal system development |
PMID:7670472 |
GO:0009887 animal organ morphogenesis |
PMID:7713493 |