Results for the protein: P03971

Results for the Protein: P03971

313104218

268

AMH

NCBI, UniProt

MIS_HUMAN RecName: Full=Muellerian-inhibiting factor; AltName: Full=Anti-Muellerian hormone; Short=AMH; AltName: Full=Muellerian-inhibiting substance; Short=MIS; Flags: Precursor

Known Diseases associated with this Protein:
PERSISTENT MUELLERIAN DUCT SYNDROME 1 (PMDS1)

9

4

0

0

13

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Default View: TGFB - smart00204	Swiss-Prot Protein: P03971 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_007490	Disease	p.ARG194CYS	Persistent Muellerian duct syndrome 1 (PMDS1)
Swiss-Prot	VAR_007487	Disease	p.ARG123TRP	Persistent Muellerian duct syndrome 1 (PMDS1)
Swiss-Prot	VAR_031028	Disease	p.CYS525TYR	Persistent Muellerian duct syndrome 1 (PMDS1)
Swiss-Prot	VAR_007491	Polymorphism	p.GLN325ARG	N/A
Swiss-Prot	VAR_007489	Polymorphism	p.GLN185GLU	N/A
Swiss-Prot	VAR_007486	Disease	p.GLY101VAL	Persistent Muellerian duct syndrome 1 (PMDS1)
Swiss-Prot	VAR_031027	Disease	p.HIS506GLN	Persistent Muellerian duct syndrome 1 (PMDS1)
Swiss-Prot	VAR_007485	Disease	p.LEU70PRO	Persistent Muellerian duct syndrome 1 (PMDS1)
Swiss-Prot	VAR_007484	Polymorphism	p.SER49ILE	N/A
Swiss-Prot	VAR_007488	Disease	p.TYR167CYS	Persistent Muellerian duct syndrome 1 (PMDS1)
Swiss-Prot	VAR_007492	Disease	p.VAL477ALA	Persistent Muellerian duct syndrome 1 (PMDS1)
Swiss-Prot	VAR_065100	Polymorphism	p.VAL515ALA	N/A
Swiss-Prot	VAR_007483	Disease	p.VAL12GLY	Persistent Muellerian duct syndrome 1 (PMDS1)

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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