Results for the protein: Q9H222

Results for the Protein: Q9H222

17432917

64240

ABCG5

NCBI, UniProt

ABCG5_HUMAN RecName: Full=ATP-binding cassette sub-family G member 5; AltName: Full=Sterolin-1

Known Diseases associated with this Protein:
SITOSTEROLEMIA
SITOSTEROLEMIA (STSL)

14

21

8

20

7

Tips:

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Default View: AAA - smart00382	Swiss-Prot Protein: Q9H222 Identical to: NP_071881 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 ↕
dbSNP	rs145164937	Polymorphism	p.ALA98GLY	N/A
dbSNP	rs4076029	Polymorphism	p.ALA478THR	N/A
dbSNP	rs6756629	Polymorphism	p.ARG50CYS	N/A
dbSNP	rs141828689	Polymorphism	p.ARG198GLN	N/A
dbSNP	rs149599171	Polymorphism	p.ARG61GLN	N/A
Swiss-Prot	VAR_012245	Disease	p.ARG389HIS	Sitosterolemia (STSL)
Swiss-Prot	VAR_012246	Disease	p.ARG419HIS	Sitosterolemia (STSL)
Swiss-Prot	VAR_012247	Disease	p.ARG419PRO	Sitosterolemia (STSL)
Swiss-Prot	VAR_012248	Disease	p.ARG550SER	Sitosterolemia (STSL)
dbSNP	rs115590670	Polymorphism	p.ASN410HIS	N/A
Swiss-Prot	VAR_020781	Disease	p.ASN437LYS	Sitosterolemia (STSL)
Swiss-Prot	VAR_020783	Polymorphism	p.CYS600TYR	N/A
dbSNP	rs6720173	Polymorphism	p.GLN604GLU	N/A
Swiss-Prot	VAR_012244	Disease	p.GLU146GLN	Sitosterolemia (STSL)
dbSNP	rs56204478	Polymorphism	p.GLY27ALA	N/A
dbSNP	rs144973796	Polymorphism	p.GLY582ARG	N/A
dbSNP	rs142125966	Polymorphism	p.GLY79ARG	N/A
dbSNP	rs140899003	Polymorphism	p.ILE523VAL	N/A
dbSNP	rs148997255	Polymorphism	p.LEU391PHE	N/A
dbSNP	rs78070897	Polymorphism	p.LYS262ILE	N/A
dbSNP	rs140374206	Polymorphism	p.MET622VAL	N/A
dbSNP	rs150401285	Polymorphism	p.PHE624LEU	N/A
dbSNP	rs149418765	Polymorphism	p.THR388MET	N/A
dbSNP	rs17031672	Polymorphism	p.THR517SER	N/A
dbSNP	rs72542427	Polymorphism	p.VAL17GLY	N/A
dbSNP	rs141997221	Polymorphism	p.VAL232ILE	N/A
dbSNP	rs72542426	Polymorphism	p.VAL47PHE	N/A
OMIM	605459.0005	Disease	p.ARG389HIS	SITOSTEROLEMIA
OMIM	605459.0003	Disease	p.ARG419HIS	SITOSTEROLEMIA
OMIM	605459.0004	Disease	p.ARG419PRO	SITOSTEROLEMIA
OMIM	605459.0002	Disease	p.ARG243TER	SITOSTEROLEMIA
OMIM	605459.0001	Disease	p.ARG408TER	SITOSTEROLEMIA
OMIM	605459.0008	Disease	p.ARG446TER	SITOSTEROLEMIA
OMIM	605459.0007	Disease	p.GLN16TER	SITOSTEROLEMIA
OMIM	605459.0006	Disease	p.GLU77TER	SITOSTEROLEMIA

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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