Results for the protein: Q96E52

Results for the Protein: Q96E52

74751828

115209

OMA1

NCBI, UniProt

OMA1_HUMAN RecName: Full=Metalloendopeptidase OMA1, mitochondrial; AltName: Full=Metalloprotease-related protein 1; Short=MPRP-1; AltName: Full=Overlapping with the m-AAA protease 1 homolog; Flags: Precursor

			0 8 0 4 4

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Default View: HtpX - COG0501 Peptidase_M48 - pfam01435	Swiss-Prot Protein: Q96E52 Identical to: NP_660286 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Peptidase_M48	pfam01435	4.6e-20	224	448

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs34466938	Polymorphism	p.ASN67LYS	N/A
Swiss-Prot	VAR_065757	Polymorphism	p.ASP365TYR	N/A
Swiss-Prot	VAR_065756	Polymorphism	p.GLU272GLY	N/A
Swiss-Prot	VAR_065755	Polymorphism	p.HIS69TYR	N/A
dbSNP	rs17117678	Polymorphism	p.ILE329LEU	N/A
Swiss-Prot	VAR_035708	Polymorphism	p.LEU226VAL	N/A
dbSNP	rs17117699	Polymorphism	p.PHE211CYS	N/A
dbSNP	rs17117720	Polymorphism	p.PRO117LEU	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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