Results for the protein: O43897

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ZnMc_BMP1_TLD	cd04281	3e-177	148	347
ZnMc_MMP_like_3	cd04327	2.7e-06	155	345
ZnMc_MMP_like	cd04268	1.1e-23	159	344
ZnMc_MMP_like_1	cd04279	0.001	159	292
ZnMc_astacin_like	cd04280	5.9e-88	159	344
ZnMc	cd00203	6.6e-37	160	344
ZnMc_hatching_enzyme	cd04283	1e-43	161	346
CUB	cd00041	3.9e-44	349	460
CUB	cd00041	3.9e-51	462	573
EGF_CA	cd00054	3.7e-11	574	615
EGF	cd00053	6.6e-10	577	615
CUB	cd00041	2e-48	618	729
EGF_CA	cd00054	3.6e-11	730	770
EGF	cd00053	3.1e-09	733	770
CUB	cd00041	3.3e-51	774	885
CUB	cd00041	7.2e-38	887	1002
Astacin	pfam01400	1.3e-113	155	348
CUB	pfam00431	2.9e-54	349	458
CUB	pfam00431	7.1e-62	462	571
CUB	pfam00431	4.4e-57	618	727
EGF	pfam00008	0.00025	734	768
CUB	pfam00431	4.9e-56	774	883
CUB	pfam00431	5.3e-44	887	1000
ZnMc	smart00235	3.3e-53	153	295
CUB	smart00042	7.1e-40	358	458
CUB	smart00042	2e-46	471	571
EGF_CA	smart00179	1.8e-12	574	615
EGF_CA	pfam07645	2.9e-06	576	614
EGF	smart00181	1.2e-11	577	615
CUB	smart00042	5.1e-44	627	727
EGF_CA	smart00179	3.2e-13	730	770
EGF	smart00181	1.2e-09	733	770
CUB	smart00042	1.5e-48	783	883
CUB	smart00042	1.9e-31	899	1000

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs72984287	Polymorphism	p.GLY23ARG	N/A
Swiss-Prot	VAR_062521	Disease	p.ILE629VAL	Atrial septal defect 6 (ASD6)
Swiss-Prot	VAR_036142	Polymorphism	p.LEU688VAL	N/A
Swiss-Prot	VAR_062519	Disease	p.MET182LEU	Atrial septal defect 6 (ASD6)
dbSNP	rs2291822	Polymorphism	p.THR958ALA	N/A
Swiss-Prot	VAR_062520	Disease	p.VAL238ALA	Atrial septal defect 6 (ASD6)
OMIM	606742.0003	Disease	p.ILE629VAL	ATRIAL SEPTAL DEFECT 6
OMIM	606742.0001	Disease	p.MET182LEU	ATRIAL SEPTAL DEFECT 6
OMIM	606742.0002	Disease	p.VAL238ALA	ATRIAL SEPTAL DEFECT 6

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