Results for the protein: P12110

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
vWFA	cd00198	1.9e-13	45	212
vWFA_subfamily_ECM	cd01450	5.4e-26	45	214
vWA_BatA_type	cd01467	0.001	45	243
vWA_collagen	cd01472	6.6e-42	45	219
vWA_F09G8-8_type	cd01477	0.00091	601	765
vWA_Matrilin	cd01475	3.1e-08	612	852
vWA_collagen_alpha_1	cd01480	3e-94	612	803
vWFA	cd00198	1.6e-20	614	783
vWFA_subfamily_ECM	cd01450	1.5e-43	614	785
vWA_integrins_alpha_	cd01469	4.7e-09	614	795
vWA_micronemal_prote	cd01471	2.3e-07	614	788
vWA_collagen	cd01472	1.8e-64	614	792
VWA_integrin_inverte	cd01476	2.5e-07	614	785
vWA_collagen_alpha3-	cd01481	5.2e-06	614	789
vWA_complement_facto	cd01470	0.00018	614	791
vWA_collagen_alphaI-	cd01482	1.5e-08	615	792
vWA_collagen_alpha_1	cd01480	8.2e-09	830	1016
vWFA	cd00198	1.7e-25	832	997
vWFA_subfamily_ECM	cd01450	1.5e-23	832	997
vWA_collagen	cd01472	1.7e-10	832	1002
VWA	pfam00092	8.5e-26	46	230
Collagen	pfam01391	1.8e-13	259	318
Collagen	pfam01391	3.4e-12	337	396
Collagen	pfam01391	7.9e-13	400	459
Collagen	pfam01391	1.9e-12	466	530
Collagen	pfam01391	1.2e-12	531	590
VWA	pfam00092	7e-45	615	801
VWA	pfam00092	1.7e-30	833	1014
VWA	smart00327	1.5e-34	44	231
VWA	smart00327	9.6e-38	613	802
VWA	smart00327	3.8e-30	831	1014

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs117931394	Polymorphism	p.ALA994THR	N/A
Swiss-Prot	VAR_058232	Polymorphism	p.ARG724CYS	N/A
Swiss-Prot	VAR_058227	Polymorphism	p.ARG489GLN	N/A
Swiss-Prot	VAR_058237	Disease	p.ARG853GLN	Bethlem myopathy (BM)
Swiss-Prot	VAR_058228	Disease	p.ARG498HIS	Ullrich congenital muscular dystrophy (UCMD)
dbSNP	rs1042917	Polymorphism	p.ARG680HIS	N/A
Swiss-Prot	VAR_058234	Disease	p.ARG784HIS	Ullrich congenital muscular dystrophy (UCMD)
Swiss-Prot	VAR_058238	Disease	p.ARG876SER	Ullrich congenital muscular dystrophy (UCMD)
Swiss-Prot	VAR_048801	Polymorphism	p.ASP227ASN	N/A
Swiss-Prot	VAR_013590	Disease	p.ASP621ASN	Bethlem myopathy (BM)
Swiss-Prot	VAR_058233	Disease	p.CYS777ARG	Bethlem myopathy (BM)
Swiss-Prot	VAR_058225	Disease	p.GLU106LYS	Bethlem myopathy (BM)
Swiss-Prot	VAR_058226	Disease	p.GLY283ARG	Ullrich congenital muscular dystrophy (UCMD)
Swiss-Prot	VAR_058230	Disease	p.GLY531ARG	Ullrich congenital muscular dystrophy (UCMD)
dbSNP	rs35548026	Polymorphism	p.GLY935ARG	N/A
Swiss-Prot	VAR_013589	Disease	p.GLY271SER	Bethlem myopathy (BM)
Swiss-Prot	VAR_058231	Disease	p.GLY700SER	Bethlem myopathy (BM)
dbSNP	rs11910483	Polymorphism	p.ILE1015LEU	N/A
Swiss-Prot	VAR_058236	Disease	p.LEU837PRO	Ullrich congenital muscular dystrophy (UCMD)
Swiss-Prot	VAR_058241	Disease	p.PRO932LEU	Bethlem myopathy (BM)
Swiss-Prot	VAR_058229	Polymorphism	p.PRO518SER	N/A
Swiss-Prot	VAR_058239	Polymorphism	p.SER895ARG	N/A
dbSNP	rs2839110	Polymorphism	p.SER399ASN	N/A
Swiss-Prot	VAR_058235	Polymorphism	p.VAL804GLY	N/A
OMIM	120240.0017	Disease	p.ARG830GLN	BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE
OMIM	120240.0014	Disease	p.ARG498HIS	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, DIGENIC, COL6A1/COL6A2
OMIM	120240.0016	Disease	p.ARG876SER	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE
OMIM	120240.0018	Disease	p.ARG366TER	BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE
OMIM	120240.0017	Disease	p.ARG843TRP	BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE
OMIM	120240.0005	Disease	p.ASP620ASN	BETHLEM MYOPATHY
OMIM	120240.0019	Disease	p.ASP871ASN	BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE
OMIM	120240.0012	Disease	p.CYS777ARG	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE
OMIM	120240.0011	Disease	p.GLN819TER	MYOSCLEROSIS, AUTOSOMAL RECESSIVE\|\|BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE
OMIM	120240.0015	Disease	p.GLU624LYS	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE
OMIM	120240.0013	Disease	p.GLY283ARG	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM	120240.0001	Disease	p.GLY250SER	BETHLEM MYOPATHY
OMIM	120240.0010	Disease	p.PRO932LEU	BETHLEM MYOPATHY

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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