Results for the protein: NP

Results for the Protein: NP_542196

98985810

1301

COL11A1

NCBI

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

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

5

4

5

4

0

Tips:

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

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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_542196 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	454	520
Collagen	pfam01391	4.7e-10	539	594
Collagen	pfam01391	7.6e-15	595	654
Collagen	pfam01391	4.8e-13	655	714
Collagen	pfam01391	6.6e-12	715	774
Collagen	pfam01391	1.6e-12	775	834
Collagen	pfam01391	2.1e-12	835	894
Collagen	pfam01391	1.9e-14	895	954
Collagen	pfam01391	1.2e-12	955	1014
Collagen	pfam01391	1.1e-12	1015	1074
Collagen	pfam01391	1.8e-13	1087	1146
Collagen	pfam01391	6.9e-12	1147	1206
Collagen	pfam01391	1.3e-12	1210	1269
Collagen	pfam01391	4.7e-12	1270	1329
Collagen	pfam01391	6.6e-12	1330	1389
Collagen	pfam01391	6.1e-14	1390	1449
Collagen	pfam01391	2.6e-12	1450	1509
Collagen	pfam01391	8e-09	1510	1554
COLFI	pfam01410	2.1e-137	1605	1816
TSPN	smart00210	1.8e-70	38	229
LamG	smart00282	1.2e-06	97	228
COLFI	smart00038	3.2e-125	1588	1817

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs11164663	Polymorphism	p.ASP46GLU	N/A
dbSNP	rs12731843	Polymorphism	p.LYS276ASN	N/A
dbSNP	rs3753841	Polymorphism	p.PRO1335LEU	N/A
dbSNP	rs1676486	Polymorphism	p.SER1547PRO	N/A
OMIM	120280.0009	Disease	p.GLY1042ARG	FIBROCHONDROGENESIS
OMIM	120280.0010	Disease	p.GLY796ARG	FIBROCHONDROGENESIS
OMIM	120280.0011	Disease	p.GLY1315TER	FIBROCHONDROGENESIS
OMIM	120280.0001	Disease	p.GLY97VAL	STICKLER SYNDROME, TYPE II
OMIM	120280.0003	Disease	p.GLY988VAL	MARSHALL/STICKLER SYNDROME

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