Results for the protein: P12107

Results for the Protein: P12107

215274245

1301

COL11A1

NCBI, UniProt

COBA1_HUMAN RecName: Full=Collagen alpha-1(XI) chain; Flags: Precursor

Known Diseases associated with this Protein:
  FIBROCHONDROGENESIS
  FIBROCHONDROGENESIS 1 (FBCG1)
  MARSHALL/STICKLER SYNDROME
  STICKLER SYNDROME 2 (STL2)
  STICKLER SYNDROME, TYPE II

13

9

5

3

14

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	Swiss-Prot Protein: P12107 Identical to: NP_001845 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	442	508
Collagen	pfam01391	4.7e-10	527	582
Collagen	pfam01391	7.6e-15	583	642
Collagen	pfam01391	4.8e-13	643	702
Collagen	pfam01391	6.6e-12	703	762
Collagen	pfam01391	1.6e-12	763	822
Collagen	pfam01391	2.1e-12	823	882
Collagen	pfam01391	1.9e-14	883	942
Collagen	pfam01391	1.2e-12	943	1002
Collagen	pfam01391	1.1e-12	1003	1062
Collagen	pfam01391	1.8e-13	1075	1134
Collagen	pfam01391	6.9e-12	1135	1194
Collagen	pfam01391	1.3e-12	1198	1257
Collagen	pfam01391	4.7e-12	1258	1317
Collagen	pfam01391	6.6e-12	1318	1377
Collagen	pfam01391	6.1e-14	1378	1437
Collagen	pfam01391	2.6e-12	1438	1497
Collagen	pfam01391	8e-09	1498	1542
COLFI	pfam01410	2.1e-137	1593	1804
TSPN	smart00210	1.8e-70	38	229
LamG	smart00282	1.2e-06	97	228
COLFI	smart00038	3.2e-125	1576	1805

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_035743	Polymorphism	p.ALA1326VAL	N/A
dbSNP	rs11164663	Polymorphism	p.ASP46GLU	N/A
Swiss-Prot	VAR_035745	Polymorphism	p.GLN1328LEU	N/A
Swiss-Prot	VAR_035744	Polymorphism	p.GLN1328LYS	N/A
Swiss-Prot	VAR_063676	Disease	p.GLY1027ARG	Stickler syndrome 2 (STL2)
Swiss-Prot	VAR_065905	Disease	p.GLY1042ARG	Fibrochondrogenesis 1 (FBCG1)
Swiss-Prot	VAR_013584	Disease	p.GLY676ARG	Stickler syndrome 2 (STL2)
Swiss-Prot	VAR_065904	Disease	p.GLY796ARG	Fibrochondrogenesis 1 (FBCG1)
Swiss-Prot	VAR_063678	Disease	p.GLY1513ASP	Stickler syndrome 2 (STL2)
Swiss-Prot	VAR_047725	Polymorphism	p.GLY559SER	N/A
Swiss-Prot	VAR_013587	Disease	p.GLY1516VAL	Stickler syndrome 2 (STL2)
Swiss-Prot	VAR_063675	Disease	p.GLY565VAL	Stickler syndrome 2 (STL2)
Swiss-Prot	VAR_013583	Disease	p.GLY625VAL	Stickler syndrome 2 (STL2)
Swiss-Prot	VAR_047728	Polymorphism	p.LEU1805PHE	N/A
dbSNP	rs3753841	Polymorphism	p.PRO1323LEU	N/A
dbSNP	rs1676486	Polymorphism	p.SER1535PRO	N/A
Swiss-Prot	VAR_047723	Polymorphism	p.TRP8GLY	N/A
OMIM	120280.0009	Disease	p.GLY1030ARG	FIBROCHONDROGENESIS
OMIM	120280.0010	Disease	p.GLY784ARG	FIBROCHONDROGENESIS
OMIM	120280.0011	Disease	p.GLY1303TER	FIBROCHONDROGENESIS
OMIM	120280.0001	Disease	p.GLY97VAL	STICKLER SYNDROME, TYPE II
OMIM	120280.0003	Disease	p.GLY976VAL	MARSHALL/STICKLER SYNDROME

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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