Results for the protein: P12109

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
vWFA	cd00198	5.8e-11	36	209
vWFA_subfamily_ECM	cd01450	8.1e-37	36	214
vWA_collagen	cd01472	1.1e-68	36	216
vWA_Matrilin	cd01475	5.3e-08	612	861
vWA_collagen_alpha_1	cd01480	3.3e-103	612	807
vWFA	cd00198	2.6e-26	614	787
vWFA_subfamily_ECM	cd01450	2.8e-34	614	792
vWA_integrins_alpha_	cd01469	2.1e-05	614	799
vWA_collagen	cd01472	2e-66	614	796
vWA_micronemal_prote	cd01471	9.1e-06	614	786
VWA_integrin_inverte	cd01476	4.3e-07	614	773
vWA_collagen_alpha3-	cd01481	1.5e-06	614	762
vWA_collagen_alphaI-	cd01482	2.9e-08	615	777
vWA_collagen_alpha_1	cd01480	1.6e-90	826	1011
vWFA	cd00198	1.2e-22	828	1004
vWFA_subfamily_ECM	cd01450	3.2e-37	828	997
vWA_complement_facto	cd01470	0.00099	828	1018
vWA_collagen	cd01472	9.1e-59	828	1001
VWA_integrin_inverte	cd01476	1.4e-05	828	989
VWA	pfam00092	1e-25	37	228
Collagen	pfam01391	2.5e-12	257	316
Collagen	pfam01391	4.9e-14	332	391
Collagen	pfam01391	1.2e-11	395	454
Collagen	pfam01391	2.1e-12	458	517
Collagen	pfam01391	1.8e-09	523	592
VWA	pfam00092	9.1e-33	615	797
VWA	pfam00092	3.8e-35	829	1013
VWA	smart00327	4.1e-38	35	232
VWA	smart00327	5e-33	613	809
VWA	smart00327	8.1e-31	827	1011

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_048763	Polymorphism	p.ARG439GLN	N/A
dbSNP	rs1053312	Polymorphism	p.ARG850HIS	N/A
Swiss-Prot	VAR_058216	Disease	p.GLY275ARG	Bethlem myopathy (BM)
Swiss-Prot	VAR_058217	Disease	p.GLY281ARG	Ullrich congenital muscular dystrophy (UCMD)
Swiss-Prot	VAR_058218	Disease	p.GLY284ARG	Ullrich congenital muscular dystrophy (UCMD)
Swiss-Prot	VAR_058219	Disease	p.GLY290ARG	Ullrich congenital muscular dystrophy (UCMD)
Swiss-Prot	VAR_058214	Disease	p.GLY272ASP	Bethlem myopathy (BM)
Swiss-Prot	VAR_013582	Disease	p.GLY341ASP	Bethlem myopathy (BM)
Swiss-Prot	VAR_058220	Polymorphism	p.GLY332SER	N/A
Swiss-Prot	VAR_013581	Disease	p.GLY305VAL	Bethlem myopathy (BM)
Swiss-Prot	VAR_058221	Disease	p.GLY341VAL	Bethlem myopathy (BM)
Swiss-Prot	VAR_013580	Disease	p.LYS121ARG	Bethlem myopathy (BM)
dbSNP	rs11553518	Polymorphism	p.LYS814ARG	N/A
Swiss-Prot	VAR_058222	Disease	p.LYS571THR	Bethlem myopathy (BM)
Swiss-Prot	VAR_058215	Disease	p.PRO274LEU	Bethlem myopathy (BM)
dbSNP	rs11553519	Polymorphism	p.SER116ASN	N/A
Swiss-Prot	VAR_058213	Disease	p.SER116ASN	Bethlem myopathy (BM)
dbSNP	rs13051496	Polymorphism	p.SER890LEU	N/A
Swiss-Prot	VAR_058223	Polymorphism	p.THR881MET	N/A
OMIM	120220.0014	Disease	p.GLY281ARG	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, DIGENIC, COL6A1/COL6A2
OMIM	120220.0012	Disease	p.GLY284ARG	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM	120220.0013	Disease	p.GLY290ARG	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
OMIM	120220.0004	Disease	p.GLY341ASP	BETHLEM MYOPATHY
OMIM	120220.0001	Disease	p.GLY286VAL	BETHLEM MYOPATHY
OMIM	120220.0005	Disease	p.LYS121ARG	BETHLEM MYOPATHY
OMIM	120220.0011	Disease	p.TYR659TER	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE

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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