Results for the protein: P20849

Results for the Protein: P20849

296439373

1297

COL9A1

NCBI, UniProt

CO9A1_HUMAN RecName: Full=Collagen alpha-1(IX) chain; Flags: Precursor

Known Diseases associated with this Protein:
STICKLER SYNDROME, TYPE IV

1

7

1

4

3

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: TSPN - smart00210 Collagen - pfam01391	Swiss-Prot Protein: P20849 Identical to: NP_001842 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Collagen	pfam01391	5e-11	329	384
Collagen	pfam01391	1e-10	385	459
Collagen	pfam01391	1.6e-13	460	519
Collagen	pfam01391	1.8e-12	520	579
Collagen	pfam01391	3.8e-14	580	639
Collagen	pfam01391	4.4e-12	643	702
Collagen	pfam01391	1.9e-10	703	757
Collagen	pfam01391	1e-12	787	846
Collagen	pfam01391	9.4e-10	849	901
TSPN	smart00210	1.6e-92	50	244

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_023326	Polymorphism	p.ARG870LYS	N/A
dbSNP	rs1135056	Polymorphism	p.GLN621ARG	N/A
Swiss-Prot	VAR_055668	Polymorphism	p.GLU684LYS	N/A
dbSNP	rs6910140	Polymorphism	p.MET767VAL	N/A
dbSNP	rs34119578	Polymorphism	p.PRO824THR	N/A
dbSNP	rs592121	Polymorphism	p.SER339PRO	N/A
Swiss-Prot	VAR_023327	Polymorphism	p.VAL882LEU	N/A
OMIM	120210.0002	Disease	p.ARG295TER	STICKLER SYNDROME, TYPE IV

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258