Results for the protein: NP

Results for the Protein: NP_001177638

299523257

1301

COL11A1

NCBI

collagen alpha-1(XI) chain isoform E 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_001177638 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	403	469
Collagen	pfam01391	4.7e-10	488	543
Collagen	pfam01391	7.6e-15	544	603
Collagen	pfam01391	4.8e-13	604	663
Collagen	pfam01391	6.6e-12	664	723
Collagen	pfam01391	1.6e-12	724	783
Collagen	pfam01391	2.1e-12	784	843
Collagen	pfam01391	1.9e-14	844	903
Collagen	pfam01391	1.2e-12	904	963
Collagen	pfam01391	1.1e-12	964	1023
Collagen	pfam01391	1.8e-13	1036	1095
Collagen	pfam01391	6.9e-12	1096	1155
Collagen	pfam01391	1.3e-12	1159	1218
Collagen	pfam01391	4.7e-12	1219	1278
Collagen	pfam01391	6.6e-12	1279	1338
Collagen	pfam01391	6.1e-14	1339	1398
Collagen	pfam01391	2.6e-12	1399	1458
Collagen	pfam01391	8e-09	1459	1503
COLFI	pfam01410	2.1e-137	1554	1765
TSPN	smart00210	1.8e-70	38	229
LamG	smart00282	1.2e-06	97	228
COLFI	smart00038	3.2e-125	1537	1766

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs11164663	Polymorphism	p.ASP46GLU	N/A
dbSNP	rs3753841	Polymorphism	p.PRO1284LEU	N/A
dbSNP	rs1676486	Polymorphism	p.SER1496PRO	N/A
OMIM	120280.0010	Disease	p.GLY745ARG	FIBROCHONDROGENESIS
OMIM	120280.0009	Disease	p.GLY991ARG	FIBROCHONDROGENESIS
OMIM	120280.0011	Disease	p.GLY1264TER	FIBROCHONDROGENESIS
OMIM	120280.0003	Disease	p.GLY937VAL	MARSHALL/STICKLER SYNDROME
OMIM	120280.0001	Disease	p.GLY97VAL	STICKLER SYNDROME, TYPE II

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