Results for the protein: O75027

Results for the Protein: O75027

8928549

22

ABCB7

NCBI, UniProt

ABCB7_HUMAN RecName: Full=ATP-binding cassette sub-family B member 7, mitochondrial; AltName: Full=ATP-binding cassette transporter 7; Short=ABC transporter 7 protein; Flags: Precursor

Known Diseases associated with this Protein:
ANEMIA, SIDEROBLASTIC, SPINOCEREBELLAR ATAXIA (ASAT)

4

4

0

0

8

Tips:

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Default View: AAA - smart00382	Swiss-Prot Protein: O75027 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_055471	Polymorphism	p.ALA580VAL	N/A
Swiss-Prot	VAR_022872	Polymorphism	p.ARG315GLY	N/A
Swiss-Prot	VAR_067354	Disease	p.GLU208ASP	Anemia, sideroblastic, spinocerebellar ataxia (ASAT)
Swiss-Prot	VAR_012640	Disease	p.GLU433LYS	Anemia, sideroblastic, spinocerebellar ataxia (ASAT)
Swiss-Prot	VAR_009156	Disease	p.ILE400MET	Anemia, sideroblastic, spinocerebellar ataxia (ASAT)
Swiss-Prot	VAR_022873	Polymorphism	p.PHE346ILE	N/A
Swiss-Prot	VAR_037972	Polymorphism	p.VAL581ALA	N/A
Swiss-Prot	VAR_022874	Disease	p.VAL411LEU	Anemia, sideroblastic, spinocerebellar ataxia (ASAT)

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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