Results for the protein: NP

Results for the Protein: NP_982353

45243561

10683

DLL3

NCBI

delta-like protein 3 isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE

3

2

3

2

0

Tips:

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Default View: MNNL - pfam07657 EGF_2 - pfam07974 EGF_CA - cd00054 EGF - cd00053 EGF - smart00181 EGF - pfam00008 EGF_CA - smart00179	RefSeq Protein: NP_982353 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF	cd00053	4.7e-10	277	310
EGF	cd00053	7.9e-08	315	351
EGF_CA	cd00054	1.9e-06	353	389
EGF	cd00053	2e-08	356	389
EGF_CA	cd00054	1.3e-07	391	427
EGF	cd00053	4.4e-06	394	427
EGF_CA	cd00054	0.00015	429	465
EGF	cd00053	6.8e-08	432	465
EGF	pfam00008	7.9e-07	278	308
EGF	pfam00008	2.7e-05	316	349
EGF	pfam00008	5.3e-06	357	387
MNNL	pfam07657	1.1e-25	26	95
EGF_2	pfam07974	0.00088	220	248
EGF	smart00181	1e-08	277	310
EGF_CA	smart00179	0.00041	278	310
EGF	smart00181	3.1e-06	315	351
EGF_CA	smart00179	0.00021	353	389
EGF	smart00181	1.1e-07	356	389
EGF_CA	smart00179	3.1e-06	391	427
EGF	smart00181	4.9e-05	394	427
EGF_CA	smart00179	0.00038	429	465
EGF	smart00181	3.9e-07	432	465

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1110627	Polymorphism	p.LEU218PRO	N/A
dbSNP	rs8107127	Polymorphism	p.PHE172CYS	N/A
OMIM	602768.0006	Disease	p.ARG238TER	SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
OMIM	602768.0003	Disease	p.GLY385ASP	SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
OMIM	602768.0008	Disease	p.GLY504ASP	SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE

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