Results for the protein: O95243

Results for the Protein: O95243

50400819

8930

MBD4

NCBI, UniProt

MBD4_HUMAN RecName: Full=Methyl-CpG-binding domain protein 4; AltName: Full=Methyl-CpG-binding endonuclease 1; AltName: Full=Methyl-CpG-binding protein MBD4; AltName: Full=Mismatch-specific DNA N-glycosylase

			0 7 0 3 4

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Default View: MBD - pfam01429 MeCP2_MBD - cd01396 MBD - cd00122 MBD - smart00391	Swiss-Prot Protein: O95243 Identical to: NP_003916 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MeCP2_MBD	cd01396	9.9e-33	78	157
MBD	pfam01429	1.7e-30	77	151
MBD	smart00391	9.9e-37	79	155

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs10342	Polymorphism	p.ALA273SER	N/A
Swiss-Prot	VAR_019514	Polymorphism	p.ALA273THR	N/A
Swiss-Prot	VAR_019360	Polymorphism	p.ASP568HIS	N/A
Swiss-Prot	VAR_029306	Polymorphism	p.CYS61ARG	N/A
dbSNP	rs140693	Polymorphism	p.GLU346LYS	N/A
Swiss-Prot	VAR_019515	Polymorphism	p.ILE358THR	N/A
dbSNP	rs2307289	Polymorphism	p.SER342PRO	N/A

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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