Results for the protein: Q9UBM7

Results for the Protein: Q9UBM7

20138066

1717

DHCR7

NCBI, UniProt

DHCR7_HUMAN RecName: Full=7-dehydrocholesterol reductase; Short=7-DHC reductase; AltName: Full=Putative sterol reductase SR-2; AltName: Full=Sterol Delta(7)-reductase

Known Diseases associated with this Protein:
  SMITH-LEMLI-OPITZ SYNDROME
  SMITH-LEMLI-OPITZ SYNDROME (SLOS)
  SMITH-LEMLI-OPITZ SYNDROME, MILD

67

4

14

2

55

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Default View: ERG4_ERG24 - pfam01222	Swiss-Prot Protein: Q9UBM7 Identical to: NP_001157289, NP_001351 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_012723	Disease	p.ALA247VAL	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023162	Disease	p.ARG242CYS	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023173	Disease	p.ARG362CYS	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_012729	Disease	p.ARG404CYS	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023182	Disease	p.ARG443CYS	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023171	Disease	p.ARG352GLN	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023183	Disease	p.ARG446GLN	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023163	Disease	p.ARG242HIS	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023185	Disease	p.ARG450LEU	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023177	Disease	p.ARG404SER	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_012727	Disease	p.ARG352TRP	Smith-Lemli-Opitz syndrome (SLOS)
dbSNP	rs949177	Polymorphism	p.ASN146LYS	N/A
Swiss-Prot	VAR_023174	Disease	p.CYS380ARG	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023167	Disease	p.CYS311GLY	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_012728	Disease	p.CYS380SER	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023159	Disease	p.CYS183TYR	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023168	Disease	p.CYS311TYR	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023175	Disease	p.CYS380TYR	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023149	Disease	p.GLN107HIS	Smith-Lemli-Opitz syndrome (SLOS)
dbSNP	rs1044482	Polymorphism	p.GLN63HIS	N/A
Swiss-Prot	VAR_023184	Disease	p.GLU448GLN	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_016975	Disease	p.GLU448LYS	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_012722	Disease	p.GLY244ARG	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023170	Disease	p.GLY344ARG	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023180	Disease	p.GLY410ARG	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023154	Disease	p.GLY147ASP	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_012730	Disease	p.GLY410SER	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_052154	Polymorphism	p.GLY425SER	N/A
Swiss-Prot	VAR_023152	Disease	p.GLY138VAL	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_012720	Disease	p.HIS119LEU	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023181	Disease	p.HIS426PRO	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023178	Disease	p.HIS405TYR	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023153	Disease	p.ILE145LEU	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023166	Disease	p.ILE297THR	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023150	Disease	p.LEU109PRO	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_012721	Disease	p.LEU157PRO	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023148	Disease	p.LEU68PRO	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_012719	Disease	p.LEU99PRO	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023160	Disease	p.LYS198GLU	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023164	Disease	p.PHE255LEU	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023161	Disease	p.PHE235SER	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_012717	Disease	p.PRO51SER	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023151	Disease	p.SER113CYS	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023156	Disease	p.SER169LEU	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023176	Disease	p.SER397LEU	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_067456	Polymorphism	p.SER5LEU	N/A
Swiss-Prot	VAR_012725	Disease	p.THR289ILE	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023155	Disease	p.THR154MET	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_012718	Disease	p.THR93MET	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023157	Disease	p.TRP182CYS	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_012724	Disease	p.TRP248CYS	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023158	Disease	p.TRP182LEU	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023169	Disease	p.TYR324HIS	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023179	Disease	p.TYR408HIS	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023172	Disease	p.VAL353ALA	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_012726	Disease	p.VAL326LEU	Smith-Lemli-Opitz syndrome (SLOS)
Swiss-Prot	VAR_023165	Disease	p.VAL281MET	Smith-Lemli-Opitz syndrome (SLOS)
OMIM	602858.0014	Disease	p.ARG404CYS	SMITH-LEMLI-OPITZ SYNDROME
OMIM	602858.0021	Disease	p.ARG352GLN	SMITH-LEMLI-OPITZ SYNDROME
OMIM	602858.0013	Disease	p.ARG352TRP	SMITH-LEMLI-OPITZ SYNDROME
OMIM	602858.0018	Disease	p.GLU448LYS	SMITH-LEMLI-OPITZ SYNDROME, MILD
OMIM	602858.0006	Disease	p.GLY244ARG	SMITH-LEMLI-OPITZ SYNDROME
OMIM	602858.0005	Disease	p.HIS119LEU	SMITH-LEMLI-OPITZ SYNDROME
OMIM	602858.0019	Disease	p.PHE284LEU	SMITH-LEMLI-OPITZ SYNDROME, MILD
OMIM	602858.0015	Disease	p.THR289ILE	SMITH-LEMLI-OPITZ SYNDROME
OMIM	602858.0009	Disease	p.THR93MET	SMITH-LEMLI-OPITZ SYNDROME
OMIM	602858.0008	Disease	p.TRP248CYS	SMITH-LEMLI-OPITZ SYNDROME
OMIM	602858.0010	Disease	p.TRP151TER	SMITH-LEMLI-OPITZ SYNDROME
OMIM	602858.0012	Disease	p.TRP37TER	SMITH-LEMLI-OPITZ SYNDROME
OMIM	602858.0016	Disease	p.TYR280CYS	SMITH-LEMLI-OPITZ SYNDROME
OMIM	602858.0011	Disease	p.VAL326LEU	SMITH-LEMLI-OPITZ SYNDROME

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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