Results for the protein: Q13064

Results for the Protein: Q13064

17368438

7681

MKRN3

NCBI, UniProt

MKRN3_HUMAN RecName: Full=Probable E3 ubiquitin-protein ligase makorin-3; AltName: Full=RING finger protein 63; AltName: Full=Zinc finger protein 127

Known Diseases associated with this Protein:
PRECOCIOUS PUBERTY, CENTRAL 2 (CPPB2)
PRECOCIOUS PUBERTY, CENTRAL, 2

2

2

1

0

3

Tips:

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Default View: ZnF_C3H1 - smart00356 RING - cd00162 RING - smart00184	Swiss-Prot Protein: Q13064 Identical to: NP_005655 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ZnF_C3H1	smart00356	1.7e-08	95	121
RING	smart00184	7.4e-11	311	364
ZnF_C3H1	smart00356	3.4e-05	396	422

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_070103	Disease	p.ARG365SER	Precocious puberty, central 2 (CPPB2)
Swiss-Prot	VAR_035956	Polymorphism	p.SER239THR	N/A
Swiss-Prot	VAR_035955	Polymorphism	p.THR145MET	N/A
OMIM	603856.0003	Disease	p.ARG365SER	PRECOCIOUS PUBERTY, CENTRAL, 2

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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