Results for the protein: Q5RIA9

Results for the Protein: Q5RIA9

74743388

445571

CBWD5

NCBI, UniProt

CBWD5_HUMAN RecName: Full=COBW domain-containing protein 5; AltName: Full=Cobalamin synthase W domain-containing protein 5

			0 7 0 0 7

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Default View: COG0523 - COG0523 cobW - pfam02492 CobW_like - cd03112 CobW_C - smart00833 CobW_C - pfam07683	Swiss-Prot Protein: Q5RIA9 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CobW_like	cd03112	1.3e-63	43	207
cobW	pfam02492	8e-62	43	231
CobW_C	pfam07683	8e-22	274	377
CobW_C	smart00833	0.00078	274	377

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067711	Polymorphism	p.GLU288ASP	N/A
Swiss-Prot	VAR_067715	Polymorphism	p.HIS387ARG	N/A
Swiss-Prot	VAR_067714	Polymorphism	p.ILE360LEU	N/A
Swiss-Prot	VAR_067716	Polymorphism	p.LYS389GLN	N/A
Swiss-Prot	VAR_067710	Polymorphism	p.THR147ALA	N/A
Swiss-Prot	VAR_067713	Polymorphism	p.TYR338CYS	N/A
Swiss-Prot	VAR_067712	Polymorphism	p.VAL303MET	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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