Results for the protein: P05997

Results for the Protein: P05997

143811378

1290

COL5A2

NCBI, UniProt

CO5A2_HUMAN RecName: Full=Collagen alpha-2(V) chain; Flags: Precursor

Known Diseases associated with this Protein:
EHLERS-DANLOS SYNDROME 2 (EDS2)
EHLERS-DANLOS SYNDROME, TYPE II

2

7

1

2

6

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: VWC - smart00214 VWC - pfam00093 Collagen - pfam01391 COLFI - smart00038 COLFI - pfam01410	Swiss-Prot Protein: P05997 Identical to: NP_000384 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Collagen	pfam01391	2.3e-12	126	185
Collagen	pfam01391	4e-11	211	266
Collagen	pfam01391	1.7e-12	267	323
Collagen	pfam01391	4.8e-12	324	383
Collagen	pfam01391	2.3e-13	390	449
Collagen	pfam01391	2.7e-13	450	509
Collagen	pfam01391	2.5e-14	510	569
Collagen	pfam01391	8.1e-13	570	629
Collagen	pfam01391	1.3e-12	630	689
Collagen	pfam01391	1.4e-11	690	749
Collagen	pfam01391	1.1e-12	750	809
Collagen	pfam01391	1.2e-15	813	872
Collagen	pfam01391	2.3e-12	873	932
Collagen	pfam01391	4.6e-12	933	992
Collagen	pfam01391	5.7e-13	993	1052
Collagen	pfam01391	5.7e-12	1053	1112
Collagen	pfam01391	1.3e-15	1113	1172
Collagen	pfam01391	4.5e-11	1173	1232
COLFI	pfam01410	4.9e-150	1282	1498
VWC	smart00214	5.8e-22	41	96
COLFI	smart00038	2.2e-173	1265	1499

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_048800	Polymorphism	p.ARG956PRO	N/A
Swiss-Prot	VAR_057913	Polymorphism	p.ASP1432VAL	N/A
Swiss-Prot	VAR_013588	Disease	p.GLY963ARG	Ehlers-Danlos syndrome 2 (EDS2)
dbSNP	rs115570272	Polymorphism	p.PRO467LEU	N/A
Swiss-Prot	VAR_057911	Polymorphism	p.PRO833LEU	N/A
dbSNP	rs35830636	Polymorphism	p.PRO460SER	N/A
Swiss-Prot	VAR_057912	Polymorphism	p.THR1230SER	N/A
Swiss-Prot	VAR_057910	Polymorphism	p.VAL512ALA	N/A
OMIM	120190.0003	Disease	p.GLY934ARG	EHLERS-DANLOS SYNDROME, TYPE II

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