Results for the protein: Q5VT66

Results for the Protein: Q5VT66

74746896

64757

MARC1

NCBI, UniProt

MOSC1_HUMAN RecName: Full=MOSC domain-containing protein 1, mitochondrial; AltName: Full=Mitochondrial amidoxime reducing component 1; Short=mARC1; AltName: Full=Moco sulfurase C-terminal domain-containing protein 1; AltName: Full=Molybdenum cofactor sulfurase C-terminal domain-containing protein 1

			0 10 0 3 7

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Default View: COG3217 - COG3217 MOSC_N - pfam03476 MOSC - pfam03473	Swiss-Prot Protein: Q5VT66 Identical to: NP_073583 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MOSC_N	pfam03476	9.2e-54	55	176
MOSC	pfam03473	4.4e-38	198	334

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs3738178	Polymorphism	p.CYS246SER	N/A
dbSNP	rs2642438	Polymorphism	p.THR165ALA	N/A
dbSNP	rs12023067	Polymorphism	p.VAL96LEU	N/A
Swiss-Prot	VAR_062274	Polymorphism	p.ASP247HIS	N/A
Swiss-Prot	VAR_030131	Polymorphism	p.CYS246SER	N/A
Swiss-Prot	VAR_062273	Polymorphism	p.LEU15HIS	N/A
Swiss-Prot	VAR_030132	Polymorphism	p.MET268ILE	N/A
Swiss-Prot	VAR_030130	Polymorphism	p.MET187LYS	N/A
Swiss-Prot	VAR_030129	Polymorphism	p.THR165ALA	N/A
Swiss-Prot	VAR_056941	Polymorphism	p.VAL96LEU	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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