Results for the protein: Q9Y4U1

Results for the Protein: Q9Y4U1

85681045

25974

MMACHC

NCBI, UniProt

MMAC_HUMAN RecName: Full=Methylmalonic aciduria and homocystinuria type C protein

Known Diseases associated with this Protein:
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLC (MMAHCC)
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE

19

2

5

2

14

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Default View:	Swiss-Prot Protein: Q9Y4U1 Identical to: NP_056321 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_024779	Disease	p.ARG161GLN	Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)
Swiss-Prot	VAR_024778	Disease	p.ARG161GLY	Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)
Swiss-Prot	VAR_024782	Disease	p.ARG206PRO	Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)
Swiss-Prot	VAR_024780	Disease	p.ARG189SER	Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)
Swiss-Prot	VAR_024783	Disease	p.ARG206TRP	Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)
dbSNP	rs6662272	Polymorphism	p.ASP60HIS	N/A
Swiss-Prot	VAR_024770	Disease	p.GLN27ARG	Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)
Swiss-Prot	VAR_024774	Disease	p.GLY147ALA	Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)
Swiss-Prot	VAR_024775	Disease	p.GLY147ASP	Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)
Swiss-Prot	VAR_024776	Disease	p.GLY156ASP	Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)
Swiss-Prot	VAR_024772	Disease	p.HIS122ARG	Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)
Swiss-Prot	VAR_024771	Disease	p.LEU116PRO	Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)
Swiss-Prot	VAR_024781	Disease	p.LEU193PRO	Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)
dbSNP	rs35219601	Polymorphism	p.SER271GLY	N/A
Swiss-Prot	VAR_024777	Disease	p.TRP157CYS	Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)
Swiss-Prot	VAR_024773	Disease	p.TYR130HIS	Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)
OMIM	609831.0005	Disease	p.ARG161GLN	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
OMIM	609831.0004	Disease	p.ARG111TER	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
OMIM	609831.0003	Disease	p.ARG132TER	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
OMIM	609831.0002	Disease	p.LEU116PRO	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
OMIM	609831.0006	Disease	p.TRP203TER	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE

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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