Results for the protein: O43405

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
vWFA_subfamily_ECM	cd01450	7.6e-46	164	322
vWA_collagen	cd01472	7.2e-68	164	328
VWA_integrin_inverte	cd01476	4.9e-19	164	319
vWA_collagen_alpha3-	cd01481	4.3e-18	164	328
vWA_collagen_alphaI-	cd01482	3.3e-96	164	328
vWA_micronemal_prote	cd01471	5.1e-07	164	347
vWA_ATR	cd01474	0.0001	362	545
vWA_Matrilin	cd01475	1.8e-13	364	548
vWA_collagen_alpha_1	cd01480	5.7e-12	364	530
vWFA	cd00198	5.8e-33	366	523
vWFA_subfamily_ECM	cd01450	1.2e-51	366	522
vWA_integrins_alpha_	cd01469	3.9e-20	366	533
vWA_collagen	cd01472	4.5e-64	366	527
VWA_integrin_inverte	cd01476	4.6e-12	366	524
vWA_collagen_alpha3-	cd01481	4e-16	368	527
vWA_collagen_alphaI-	cd01482	4.3e-44	368	527
LCCL	smart00603	1.2e-50	30	112
VWA	smart00327	2.9e-33	163	335
VWA	smart00327	4e-43	365	538

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_017175	Disease	p.ALA119THR	Deafness, autosomal dominant, 9 (DFNA9)
Swiss-Prot	VAR_022260	Polymorphism	p.ASP281ASN	N/A
Swiss-Prot	VAR_070034	Disease	p.CYS162TYR	Deafness, autosomal dominant, 9 (DFNA9)
dbSNP	rs17097468	Polymorphism	p.GLU518GLY	N/A
Swiss-Prot	VAR_022259	Polymorphism	p.GLY135ARG	N/A
Swiss-Prot	VAR_008534	Disease	p.GLY88GLU	Deafness, autosomal dominant, 9 (DFNA9)
Swiss-Prot	VAR_008535	Disease	p.ILE109ASN	Deafness, autosomal dominant, 9 (DFNA9)
Swiss-Prot	VAR_022261	Polymorphism	p.ILE402VAL	N/A
Swiss-Prot	VAR_008532	Disease	p.PRO51SER	Deafness, autosomal dominant, 9 (DFNA9)
Swiss-Prot	VAR_011926	Polymorphism	p.PRO532SER	N/A
dbSNP	rs1045644	Polymorphism	p.THR352SER	N/A
Swiss-Prot	VAR_008536	Disease	p.TRP117ARG	Deafness, autosomal dominant, 9 (DFNA9)
Swiss-Prot	VAR_008533	Disease	p.VAL66GLY	Deafness, autosomal dominant, 9 (DFNA9)
OMIM	603196.0006	Disease	p.ALA119THR	DEAFNESS, AUTOSOMAL DOMINANT 9
OMIM	603196.0007	Disease	p.CYS542PHE	DEAFNESS, AUTOSOMAL DOMINANT 9
OMIM	603196.0008	Disease	p.CYS542TYR	DEAFNESS, AUTOSOMAL DOMINANT 9
OMIM	603196.0002	Disease	p.GLY88GLU	DEAFNESS, AUTOSOMAL DOMINANT 9
OMIM	603196.0005	Disease	p.ILE109ASN	DEAFNESS, AUTOSOMAL DOMINANT 9
OMIM	603196.0009	Disease	p.MET512THR	DEAFNESS, AUTOSOMAL DOMINANT 9
OMIM	603196.0004	Disease	p.PRO51SER	DEAFNESS, AUTOSOMAL DOMINANT 9
OMIM	603196.0003	Disease	p.TRP117ARG	DEAFNESS, AUTOSOMAL DOMINANT 9
OMIM	603196.0001	Disease	p.VAL66GLY	DEAFNESS, AUTOSOMAL DOMINANT 9

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