Results for the protein: NP

Results for the Protein: NP_542197

299523253

1301

COL11A1

NCBI

collagen alpha-1(XI) chain isoform C preproprotein [Homo sapiens]

Known Diseases associated with this Protein:
  FIBROCHONDROGENESIS
  MARSHALL/STICKLER SYNDROME
  STICKLER SYNDROME, TYPE II

5

3

5

3

0

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 LamG - cd00110 LamG - smart00282 Laminin_G_2 - pfam02210 Collagen - pfam01391 COLFI - smart00038 COLFI - pfam01410	RefSeq Protein: NP_542197 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Laminin_G_2	pfam02210	1.2e-13	105	228
Collagen	pfam01391	4.9e-11	326	392
Collagen	pfam01391	4.7e-10	411	466
Collagen	pfam01391	7.6e-15	467	526
Collagen	pfam01391	4.8e-13	527	586
Collagen	pfam01391	6.6e-12	587	646
Collagen	pfam01391	1.6e-12	647	706
Collagen	pfam01391	2.1e-12	707	766
Collagen	pfam01391	1.9e-14	767	826
Collagen	pfam01391	1.2e-12	827	886
Collagen	pfam01391	1.1e-12	887	946
Collagen	pfam01391	1.8e-13	959	1018
Collagen	pfam01391	6.9e-12	1019	1078
Collagen	pfam01391	1.3e-12	1082	1141
Collagen	pfam01391	4.7e-12	1142	1201
Collagen	pfam01391	6.6e-12	1202	1261
Collagen	pfam01391	6.1e-14	1262	1321
Collagen	pfam01391	2.6e-12	1322	1381
Collagen	pfam01391	8e-09	1382	1426
COLFI	pfam01410	2.1e-137	1477	1688
TSPN	smart00210	1.8e-70	38	229
LamG	smart00282	1.2e-06	97	228
COLFI	smart00038	3.2e-125	1460	1689

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs11164663	Polymorphism	p.ASP46GLU	N/A
dbSNP	rs3753841	Polymorphism	p.PRO1207LEU	N/A
dbSNP	rs1676486	Polymorphism	p.SER1419PRO	N/A
OMIM	120280.0010	Disease	p.GLY668ARG	FIBROCHONDROGENESIS
OMIM	120280.0009	Disease	p.GLY914ARG	FIBROCHONDROGENESIS
OMIM	120280.0011	Disease	p.GLY1187TER	FIBROCHONDROGENESIS
OMIM	120280.0003	Disease	p.GLY860VAL	MARSHALL/STICKLER SYNDROME
OMIM	120280.0001	Disease	p.GLY97VAL	STICKLER SYNDROME, TYPE II

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