| Type | Description |
|---|---|
| Definition | collagen type II alpha 1 chain |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:32:00 | Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita. | 31972903 |
| 2021-04-03 13:30:00 | Next-generation sequencing-aided precise diagnosis of Stickler syndrome type I. | 31736238 |
| 2021-03-27 14:42:00 | Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes. | 32427345 |
| 2021-03-20 13:28:00 | Mutation Spectrum and Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment. | 32756486 |
| 2021-01-16 15:53:00 | Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies. | 31755234 |
| Type | IDs |
|---|---|
| Synonymous | ANFH, AOM, COL11A3, SEDC, STL1 |
| Gene |
UniProtKB-ID:
CO2A1_HUMAN
UniprotKB:
P02458
UniParc:
UPI0000D79713,
UPI0000246C60,
UPI000006DC79
EMBL:
X02378,
X02376,
BC116449,
X16468,
BT007205,
X02372,
M25728,
X13783,
M60299,
AC004801,
X57010,
M25656,
M25730,
X16158,
M27468,
X02374,
J00116,
X02373,
M25655,
X06268,
L00977,
X58709,
M32168,
M12048,
M64345,
BC007252,
U15195,
X00339,
M63281,
X02371,
M25698,
L10347,
X16711,
X02377,
X02375
Ensembl:
ENSG00000139219
KO:
hsa:1280
|
| Nucleutide sequences |
EMBL-CDS:
CAA34282.1,
CAA40330.1,
AAC41772.1,
CAA26226.1,
CAA25092.1,
CAA29604.1,
CAA34488.1,
CAA26224.1,
AAA73873.1,
CAA32030.1,
AAP35869.1,
AAH07252.1,
CAA34280.1,
AAD15287.1,
AAA51997.1,
CAA34281.1,
CAA34683.1,
CAA34283.1,
AAA52038.1,
AAA52051.1,
CAA26227.1,
CAA34284.1,
AAA58428.2,
CAA26225.1,
AAI16450.1,
AAA52039.1,
AAB60370.1,
CAA34278.1,
CAA26223.1,
CAA34279.1
Ensembl_TRS:
ENST00000337299,
ENST00000380518
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000369889,
ENSP00000338213
RefSeq:
XP_016874318.1,
XP_016874319.1,
NP_149162.2,
NP_001835.3,
XP_016874320.1,
XP_016874317.1
|
| Others |
UniRef100:
UniRef100_P02458
UniRef90:
UniRef90_P02458
UniRef50:
UniRef50_P02458
UniGene:
Hs.408182
CCDS:
CCDS8759.1,
CCDS41778.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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