Results for the protein: NP

Results for the Protein: NP_085059

110611235

80781

COL18A1

NCBI

collagen alpha-1(XVIII) chain isoform 1 precursor [Homo sapiens]

Known Diseases associated with this Protein:
KNOBLOCH SYNDROME 1

1

6

1

6

0

Tips:

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Default View: DUF959 - pfam06121 TSPN - smart00210 LamG - cd00110 Collagen - pfam01391 Endostatin - pfam06482 Endostatin-like - cd00247	RefSeq Protein: NP_085059 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Endostatin-like	cd00247	2.9e-128	1340	1510
Collagen	pfam01391	2.6e-09	517	587
Collagen	pfam01391	5.1e-10	588	640
Collagen	pfam01391	5.2e-10	665	726
Collagen	pfam01391	1.6e-12	727	786
Collagen	pfam01391	2e-12	813	872
Collagen	pfam01391	3.1e-10	878	951
Collagen	pfam01391	1.7e-10	954	1009
Collagen	pfam01391	1e-09	1014	1077
Collagen	pfam01391	1.8e-08	1088	1139
Collagen	pfam01391	2.3e-08	1141	1204
DUF959	pfam06121	1.4e-119	13	195
TSPN	smart00210	1.2e-57	221	409
Endostatin	pfam06482	4.5e-216	1202	1516

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs76658745	Polymorphism	p.ARG261TRP	N/A
dbSNP	rs12483377	Polymorphism	p.ASP1437ASN	N/A
dbSNP	rs2230693	Polymorphism	p.GLN960HIS	N/A
dbSNP	rs76547444	Polymorphism	p.GLY517SER	N/A
dbSNP	rs79980197	Polymorphism	p.PRO886ARG	N/A
dbSNP	rs62000962	Polymorphism	p.VAL841ILE	N/A
OMIM	120328.0004	Disease	p.ASP1437ASN	KNOBLOCH SYNDROME 1

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