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Protein Ontology report - cartilage oligomeric matrix protein
PR:000000085 -
http://purl.obolibrary.org/obo/PR_000000085
Protein Forms
Annotations
Ontology Information
Show OBO stanza
PRO ID
PR:000000085
PRO name
cartilage oligomeric matrix protein
Synonyms
PRO-Short-label
:
EXACT:
COMP
Other
:
EXACT:
thrombospondin-5 | TSP5
Definition
"A thrombospondin subgroup B that is a translation product of the human COMP gene or a 1:1 ortholog thereof." [PRO:CNA]
PRO Category
gene
Parent
PR:000000030
thrombospondin subgroup B
Terms by PRO Category
Organism-Independent
Organism-Specific
Category
Number of Terms
Category
Number of Terms
Gene
1
Organism-Gene
3
Sequence
1
Organism-Sequence
36
Modification
2
Organism-Modification
6
Term Hierarchy
Visualization
DAG:
OLS:
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Protein Forms
Switch to
Compact View
Category
PRO ID
Name
Short Name
Definition
Ann.
Has Annotation?
Comp.
In Complex?
gene
PR:000000085
cartilage oligomeric matrix protein
COMP
"A thrombospondin subgroup B that is a translation product of the human COMP gene or a 1:1 ortholog thereof." [PRO:CNA]
organism-gene
PR:P35444
cartilage oligomeric matrix protein (rat)
rCOMP
"A cartilage oligomeric matrix protein that is encoded in the genome of rat." [OMA:P35444, PRO:DNx]
organism-gene
PR:P49747
cartilage oligomeric matrix protein (human)
hCOMP
"A cartilage oligomeric matrix protein that is encoded in the genome of human." [PRO:CNA, UniProtKB:P49747]
organism-sequence
PR:000000231
cartilage oligomeric matrix protein sequence variant P276R (human)
hCOMP/var:P276R
"A cartilage oligomeric matrix protein (human) that has an Arg residue at the position equivalent to Pro-276 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Pro-276, CHEBI:29952." [PMID:11565064, PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000232
cartilage oligomeric matrix protein sequence variant C387G (human)
hCOMP/var:C387G
"A cartilage oligomeric matrix protein (human) that has a Gly residue at the position equivalent to Cys-387 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Cys-387, CHEBI:29947." [PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000233
cartilage oligomeric matrix protein sequence variant D408Y (human)
hCOMP/var:D408Y
"A cartilage oligomeric matrix protein (human) that has a Tyr residue at the position equivalent to Asp-408 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-408, CHEBI:46858." [PMID:9452026, PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000234
cartilage oligomeric matrix protein sequence variant D420A (human)
hCOMP/var:D420A
"A cartilage oligomeric matrix protein (human) that has an Ala residue at the position equivalent to Asp-420 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-420, CHEBI:46217." [PMID:11565064, PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000235
cartilage oligomeric matrix protein sequence variant G440E (human)
hCOMP/var:G440E
"A cartilage oligomeric matrix protein (human) that has a Glu residue at the position equivalent to Gly-440 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Gly-440, CHEBI:29972." [PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000236
cartilage oligomeric matrix protein sequence variant G440R (human)
hCOMP/var:G440R
"A cartilage oligomeric matrix protein (human) that has an Arg residue at the position equivalent to Gly-440 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Gly-440, CHEBI:29952." [PMID:9452026, PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000237
cartilage oligomeric matrix protein sequence variant N453S (human)
hCOMP/var:N453S
"A cartilage oligomeric matrix protein (human) that has a Ser residue at the position equivalent to Asn-453 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asn-453, CHEBI:29999." [PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000238
cartilage oligomeric matrix protein sequence variant D439V (human)
hCOMP/var:D439V
"A cartilage oligomeric matrix protein (human) that has a Val residue at the position equivalent to Asp-439 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-439, CHEBI:30015." [PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000239
cartilage oligomeric matrix protein sequence variant C468Y (human)
hCOMP/var:C468Y
"A cartilage oligomeric matrix protein (human) that has a Tyr residue at the position equivalent to Cys-468 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Cys-468, CHEBI:46858." [PMID:7670471, PMID:9452026, PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000240
cartilage oligomeric matrix protein sequence variant D472Y (human)
hCOMP/var:D472Y
"A cartilage oligomeric matrix protein (human) that has a Tyr residue at the position equivalent to Asp-472 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-472, CHEBI:46858." [PMID:7670471, PMID:9452026, PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000241
cartilage oligomeric matrix protein sequence variant D473G (human)
hCOMP/var:D473G
"A cartilage oligomeric matrix protein (human) that has a Gly residue at the position equivalent to Asp-473 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-473, CHEBI:29947." [PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000242
cartilage oligomeric matrix protein sequence variant D290N (human)
hCOMP/var:D290N
"A cartilage oligomeric matrix protein (human) that has an Asn residue at the position equivalent to Asp-290 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-290, CHEBI:50347." [PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000243
cartilage oligomeric matrix protein sequence variant D482G (human)
hCOMP/var:D482G
"A cartilage oligomeric matrix protein (human) that has a Gly residue at the position equivalent to Asp-482 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-482, CHEBI:29947." [PMID:9452063, PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000244
cartilage oligomeric matrix protein sequence variant D518N (human)
hCOMP/var:D518N
"A cartilage oligomeric matrix protein (human) that has an Asn residue at the position equivalent to Asp-518 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-518, CHEBI:50347." [PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000245
cartilage oligomeric matrix protein sequence variant G719D (human)
hCOMP/var:G719D
"A cartilage oligomeric matrix protein (human) that has an Asp residue at the position equivalent to Gly-719 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Gly-719, CHEBI:29958." [PMID:11746044, PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000246
cartilage oligomeric matrix protein sequence variant N523K (human)
hCOMP/var:N523K
"A cartilage oligomeric matrix protein (human) that has a Lys residue at the position equivalent to Asn-523 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asn-523, CHEBI:29967." [PMID:9021009, PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000247
cartilage oligomeric matrix protein sequence variant T585M (human)
hCOMP/var:T585M
"A cartilage oligomeric matrix protein (human) that has a Met residue at the position equivalent to Thr-585 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Thr-585, CHEBI:16044." [PMID:11565064, PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000248
cartilage oligomeric matrix protein sequence variant T585R (human)
hCOMP/var:T585R
"A cartilage oligomeric matrix protein (human) that has an Arg residue at the position equivalent to Thr-585 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Thr-585, CHEBI:29952." [PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000249
cartilage oligomeric matrix protein sequence variant 26 (human)
hCOMP/var:26
"A cartilage oligomeric matrix protein (human) that has a Val residue at the position equivalent to region 391-394 of the amino acid sequence represented by UniProtKB:P49747-1." [PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000250
cartilage oligomeric matrix protein sequence variant D372del (human)
hCOMP/var:D372del
"A cartilage oligomeric matrix protein (human) that has a single-residue deletion at the position equivalent to Asp-372 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, 21-371, 373-757." [PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000251
cartilage oligomeric matrix protein sequence variant D374del (human)
hCOMP/var:D374del
"A cartilage oligomeric matrix protein (human) that has a single-residue deletion at the position equivalent to Asp-374 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, 21-373, 375-757." [PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000252
cartilage oligomeric matrix protein sequence variant S459del (human)
hCOMP/var:S459del
"A cartilage oligomeric matrix protein (human) that has a single-residue deletion at the position equivalent to Ser-459 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, 21-458, 460-757." [PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000253
cartilage oligomeric matrix protein sequence variant G299R (human)
hCOMP/var:G299R
"A cartilage oligomeric matrix protein (human) that has an Arg residue at the position equivalent to Gly-299 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Gly-299, CHEBI:29952." [PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000254
cartilage oligomeric matrix protein sequence variant D469del (human)
hCOMP/var:D469del
"A cartilage oligomeric matrix protein (human) that has a single-residue deletion at the position equivalent to Asp-469 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, 21-468, 470-757." [PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000255
cartilage oligomeric matrix protein sequence variant D473del (human)
hCOMP/var:D473del
"A cartilage oligomeric matrix protein (human) that has a single-residue deletion at the position equivalent to Asp-473 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, 21-472, 474-757." [PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000256
cartilage oligomeric matrix protein sequence variant 32 (human)
hCOMP/var:32
"A cartilage oligomeric matrix protein (human) that has a two-residue deletion at the positions equivalent to region 367-368 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, 21-366, 369-757." [PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000257
cartilage oligomeric matrix protein sequence variant 33 (human)
hCOMP/var:33
"A cartilage oligomeric matrix protein (human) that has a four-residue deletion at the positions equivalent to region 513-516 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, 21-512, 517-757." [PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000258
cartilage oligomeric matrix protein sequence variant C328R (human)
hCOMP/var:C328R
"A cartilage oligomeric matrix protein (human) that has an Arg residue at the position equivalent to Cys-328 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Cys-328, CHEBI:29952." [PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000259
cartilage oligomeric matrix protein sequence variant D342Y (human)
hCOMP/var:D342Y
"A cartilage oligomeric matrix protein (human) that has a Tyr residue at the position equivalent to Asp-342 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-342, CHEBI:46858." [PMID:7670472, PMID:9452026, PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000260
cartilage oligomeric matrix protein sequence variant C348R (human)
hCOMP/var:C348R
"A cartilage oligomeric matrix protein (human) that has an Arg residue at the position equivalent to Cys-348 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Cys-348, CHEBI:29952." [PMID:11746045, PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000261
cartilage oligomeric matrix protein sequence variant D361V (human)
hCOMP/var:D361V
"A cartilage oligomeric matrix protein (human) that has a Val residue at the position equivalent to Asp-361 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-361, CHEBI:30015." [PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000262
cartilage oligomeric matrix protein sequence variant D361Y (human)
hCOMP/var:D361Y
"A cartilage oligomeric matrix protein (human) that has a Tyr residue at the position equivalent to Asp-361 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asp-361, CHEBI:46858." [PMID:9452027, PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:000000263
cartilage oligomeric matrix protein sequence variant C371S (human)
hCOMP/var:C371S
"A cartilage oligomeric matrix protein (human) that has a Ser residue at the position equivalent to Cys-371 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Cys-371, CHEBI:29999." [PMID:9184241, PRO:CNA, PRO:DAN]
Yes
organism-sequence
PR:P49747-1
cartilage oligomeric matrix protein isoform 1 (human)
hCOMP/iso:1
"A cartilage oligomeric matrix protein isoform 1 that is encoded in the genome of human." [PRO:CNA]
Yes
organism-modification
PR:000036452
cartilage oligomeric matrix protein isoform 1, signal peptide removed form (human)
hCOMP/iso:1/SigPep-
"A cartilage oligomeric matrix protein isoform 1, signal peptide removed form in human. UniProtKB:P49747-1, 21-757." [PMID:7670472, PMID:7713493, PMID:9749943, PRO:CNA]
Yes
organism-sequence
PR:P49747-2
cartilage oligomeric matrix protein isoform h2 (human)
hCOMP/iso:h2
"A cartilage oligomeric matrix protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49747-2." [PRO:DNx, UniProtKB:P49747]
organism-modification
PR:000056586
cartilage oligomeric matrix protein N-glycosylated 1 (human)
hCOMP/NGlyco:1
"A cartilage oligomeric matrix protein (human) that has been N-glycosylated at the residue equivalent to Asn-121 of the amino acid sequence represented by UniProtKB:P49747-1, in which the glycan composition is represented by GlyTouCan:G83555HU. Example: UniProtKB:P49747-1, Asn-121, MOD:00160~GNO:G83555HU." [GlyGen:P49747-1, PMID:29671580, PRO:DNx]
organism-modification
PR:000056587
cartilage oligomeric matrix protein N-glycosylated 2 (human)
hCOMP/NGlyco:2
"A cartilage oligomeric matrix protein (human) that has been N-glycosylated at the residue equivalent to Asn-742 of the amino acid sequence represented by UniProtKB:P49747-1, in which the glycan composition is represented by GlyTouCan:G80920RR. Example: UniProtKB:P49747-1, Asn-742, MOD:00160~GNO:G80920RR." [GlyGen:P49747-1, PMID:29671580, PRO:DNx]
organism-modification
PR:000068189
cartilage oligomeric matrix protein deaminated 1 (human)
hCOMP/Deam:1
"A cartilage oligomeric matrix protein (human) that has been deaminated on the residue at the position equivalent to Asn-123 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asn-123, MOD:00684." [IEDB_epitope:167687, PRO:DNx]
organism-modification
PR:000073868
cartilage oligomeric matrix protein deaminated 2 (human)
hCOMP/Deam:2
"A cartilage oligomeric matrix protein (human) that has been deaminated on the residue at the position equivalent to Asn-78 of the amino acid sequence represented by UniProtKB:P49747-1. Example: UniProtKB:P49747-1, Asn-78, MOD:00684." [IEDB_epitope:167500, PRO:DNx]
organism-modification
PR:000085876
cartilage oligomeric matrix protein, signal peptide removed form (human)
hCOMP/SigPep-
"A cartilage oligomeric matrix protein (human) that has had the signal peptide removed. Example: UniProtKB:P49747-1, 21-757." [PRO:DNx, Reactome:R-HSA-2426331]
organism-modification
PR:000036452
cartilage oligomeric matrix protein isoform 1, signal peptide removed form (human)
hCOMP/iso:1/SigPep-
"A cartilage oligomeric matrix protein isoform 1, signal peptide removed form in human. UniProtKB:P49747-1, 21-757." [PMID:7670472, PMID:7713493, PMID:9749943, PRO:CNA]
Yes
organism-gene
PR:Q9R0G6
cartilage oligomeric matrix protein (mouse)
mCOMP
"A cartilage oligomeric matrix protein that is encoded in the genome of mouse." [OMA:Q9R0G6, PRO:DNx]
organism-sequence
PR:Q9R0G6-1
cartilage oligomeric matrix protein isoform 1 (mouse)
mCOMP/iso:1
"A cartilage oligomeric matrix protein isoform 1 that is encoded in the genome of mouse." [PRO:CNA]
sequence
PR:000000230
cartilage oligomeric matrix protein isoform 1
COMP/iso:1
"A cartilage oligomeric matrix protein that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49747-1 or a 1:1 ortholog thereof." [PRO:CNA, PRO:DAN]
organism-sequence
PR:P49747-1
cartilage oligomeric matrix protein isoform 1 (human)
hCOMP/iso:1
"A cartilage oligomeric matrix protein isoform 1 that is encoded in the genome of human." [PRO:CNA]
Yes
organism-modification
PR:000036452
cartilage oligomeric matrix protein isoform 1, signal peptide removed form (human)
hCOMP/iso:1/SigPep-
"A cartilage oligomeric matrix protein isoform 1, signal peptide removed form in human. UniProtKB:P49747-1, 21-757." [PMID:7670472, PMID:7713493, PMID:9749943, PRO:CNA]
Yes
organism-sequence
PR:Q9R0G6-1
cartilage oligomeric matrix protein isoform 1 (mouse)
mCOMP/iso:1
"A cartilage oligomeric matrix protein isoform 1 that is encoded in the genome of mouse." [PRO:CNA]
modification
PR:000000540
cartilage oligomeric matrix protein isoform 1, signal peptide removed form
COMP/iso:1/SigPep-
"A cartilage oligomeric matrix protein isoform 1 that has had the signal peptide removed." [PRO:CNA]
organism-modification
PR:000036452
cartilage oligomeric matrix protein isoform 1, signal peptide removed form (human)
hCOMP/iso:1/SigPep-
"A cartilage oligomeric matrix protein isoform 1, signal peptide removed form in human. UniProtKB:P49747-1, 21-757." [PMID:7670472, PMID:7713493, PMID:9749943, PRO:CNA]
Yes
modification
PR:000025416
cartilage oligomeric matrix protein proteolytic cleavage product
COMP/ClvPrd
"A cartilage oligomeric matrix protein that has been processed by proteolytic cleavage." [PRO:DNx]
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Functional Annotation (PRO-centric view)
Switch to
GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000231
hCOMP/var:P276R
Example: UniProtKB:P49747-1, Pro-276, CHEBI:29952
associated_with_disease_progression
DO:12721
multiple epiphyseal dysplasia
PMID:11565064
PR:000000232
hCOMP/var:C387G
Example: UniProtKB:P49747-1, Cys-387, CHEBI:29947
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
UniProtKB_VAR:VAR_007625
PR:000000233
hCOMP/var:D408Y
Example: UniProtKB:P49747-1, Asp-408, CHEBI:46858
associated_with_disease_progression
DO:12721
multiple epiphyseal dysplasia
PMID:9452026
PR:000000234
hCOMP/var:D420A
Example: UniProtKB:P49747-1, Asp-420, CHEBI:46217
associated_with_disease_progression
DO:12721
multiple epiphyseal dysplasia
PMID:11565064
PR:000000235
hCOMP/var:G440E
Example: UniProtKB:P49747-1, Gly-440, CHEBI:29972
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
UniProtKB_VAR:VAR_007628
PR:000000236
hCOMP/var:G440R
Example: UniProtKB:P49747-1, Gly-440, CHEBI:29952
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
PMID:9452026
PR:000000237
hCOMP/var:N453S
Example: UniProtKB:P49747-1, Asn-453, CHEBI:29999
associated_with_disease_progression
DO:12721
multiple epiphyseal dysplasia
UniProtKB_VAR:VAR_007630
PR:000000238
hCOMP/var:D439V
Example: UniProtKB:P49747-1, Asp-439, CHEBI:30015
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
UniProtKB_VAR:VAR_007618
PR:000000239
hCOMP/var:C468Y
Example: UniProtKB:P49747-1, Cys-468, CHEBI:46858
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
PMID:7670471
;
PMID:9452026
PR:000000240
hCOMP/var:D472Y
Example: UniProtKB:P49747-1, Asp-472, CHEBI:46858
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
PMID:7670471
;
PMID:9452026
PR:000000241
hCOMP/var:D473G
Example: UniProtKB:P49747-1, Asp-473, CHEBI:29947
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
UniProtKB_VAR:VAR_007635
PR:000000242
hCOMP/var:D290N
Example: UniProtKB:P49747-1, Asp-290, CHEBI:50347
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
UniProtKB_VAR:VAR_007614
PR:000000243
hCOMP/var:D482G
Example: UniProtKB:P49747-1, Asp-482, CHEBI:29947
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
PMID:9452063
PR:000000244
hCOMP/var:D518N
Example: UniProtKB:P49747-1, Asp-518, CHEBI:50347
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
UniProtKB_VAR:VAR_007639
PR:000000245
hCOMP/var:G719D
Example: UniProtKB:P49747-1, Gly-719, CHEBI:29958
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
PMID:11746044
PR:000000246
hCOMP/var:N523K
Example: UniProtKB:P49747-1, Asn-523, CHEBI:29967
associated_with_disease_progression
DO:12721
multiple epiphyseal dysplasia
PMID:9021009
PR:000000247
hCOMP/var:T585M
Example: UniProtKB:P49747-1, Thr-585, CHEBI:16044
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
PMID:11565064
DO:12721
multiple epiphyseal dysplasia
PMID:11565064
PR:000000248
hCOMP/var:T585R
Example: UniProtKB:P49747-1, Thr-585, CHEBI:29952
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
Example: UniProtKB:P49747-1, 21-371, 373-757
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
UniProtKB_VAR:VAR_007623
PR:000000251
hCOMP/var:D374del
Example: UniProtKB:P49747-1, 21-373, 375-757
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
UniProtKB_VAR:VAR_007624
PR:000000252
hCOMP/var:S459del
Example: UniProtKB:P49747-1, 21-458, 460-757
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
UniProtKB_VAR:VAR_007631
PR:000000253
hCOMP/var:G299R
Example: UniProtKB:P49747-1, Gly-299, CHEBI:29952
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
UniProtKB_VAR:VAR_007615
PR:000000254
hCOMP/var:D469del
Example: UniProtKB:P49747-1, 21-468, 470-757
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
UniProtKB_VAR:VAR_007633
PR:000000255
hCOMP/var:D473del
Example: UniProtKB:P49747-1, 21-472, 474-757
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
UniProtKB_VAR:VAR_007636
PR:000000256
hCOMP/var:32
Example: 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
Example: UniProtKB:P49747-1, 21-512, 517-757
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
UniProtKB_VAR:VAR_007638
PR:000000258
hCOMP/var:C328R
Example: UniProtKB:P49747-1, Cys-328, CHEBI:29952
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
UniProtKB_VAR:VAR_007616
PR:000000259
hCOMP/var:D342Y
Example: UniProtKB:P49747-1, Asp-342, CHEBI:46858
associated_with_disease_progression
DO:12721
multiple epiphyseal dysplasia
PMID:7670472
;
PMID:9452026
PR:000000260
hCOMP/var:C348R
Example: UniProtKB:P49747-1, Cys-348, CHEBI:29952
associated_with_disease_progression
DO:0080047
pseudoachondroplasia
PMID:11746045
PR:000000261
hCOMP/var:D361V
Example: UniProtKB:P49747-1, Asp-361, CHEBI:30015
associated_with_disease_progression
DO:12721
multiple epiphyseal dysplasia
UniProtKB_VAR:VAR_007619
PR:000000262
hCOMP/var:D361Y
Example: UniProtKB:P49747-1, Asp-361, CHEBI:46858
associated_with_disease_progression
DO:12721
multiple epiphyseal dysplasia
PMID:9452026
PR:000000263
hCOMP/var:C371S
Example: UniProtKB:P49747-1, Cys-371, CHEBI:29999
associated_with_disease_progression
DO:12721
multiple epiphyseal dysplasia
PMID:9184241
PR:000036452
hCOMP/iso:1/SigPep-
UniProtKB:P49747-1, 21-757
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
