Results for the protein: P51160

Results for the Protein: P51160

90111861

5146

PDE6C

NCBI, UniProt

PDE6C_HUMAN RecName: Full=Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'; AltName: Full=cGMP phosphodiesterase 6C; Flags: Precursor

Known Diseases associated with this Protein:
  ACHROMATOPISIA 5
  CONE DYSTROPHY 4
  CONE DYSTROPHY 4 (COD4)

10

6

7

3

6

Tips:

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Default View: GAF - pfam01590 GAF - smart00065 HDc - smart00471 PDEase_I - pfam00233 HDc - cd00077	Swiss-Prot Protein: P51160 Identical to: NP_006195 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GAF	pfam01590	1.9e-19	75	224
GAF	pfam01590	1.1e-21	256	433
PDEase_I	pfam00233	6.1e-130	561	809
GAF	smart00065	5.2e-38	75	234
GAF	smart00065	9e-57	256	443
HDc	smart00471	3.6e-28	559	737

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_062408	Disease	p.ARG29TRP	Cone dystrophy 4 (COD4)
dbSNP	rs76999928	Polymorphism	p.ASP157GLU	N/A
dbSNP	rs12261131	Polymorphism	p.GLU699ALA	N/A
Swiss-Prot	VAR_025472	Polymorphism	p.GLU834GLY	N/A
Swiss-Prot	VAR_064744	Polymorphism	p.ILE826SER	N/A
Swiss-Prot	VAR_025471	Polymorphism	p.LYS822ASN	N/A
Swiss-Prot	VAR_062410	Disease	p.MET455VAL	Cone dystrophy 4 (COD4)
dbSNP	rs701865	Polymorphism	p.SER270THR	N/A
Swiss-Prot	VAR_062409	Disease	p.TYR323ASN	Cone dystrophy 4 (COD4)
OMIM	600827.0011	Disease	p.ARG276TER	ACHROMATOPISIA 5
OMIM	600827.0001	Disease	p.ARG29TRP	CONE DYSTROPHY 4
OMIM	600827.0010	Disease	p.GLU790LYS	ACHROMATOPISIA 5
OMIM	600827.0009	Disease	p.HIS602LEU	ACHROMATOPISIA 5
OMIM	600827.0005	Disease	p.MET455VAL	ACHROMATOPISIA 5
OMIM	600827.0002	Disease	p.TYR323ASN	ACHROMATOPISIA 5
OMIM	600827.0012	Disease	p.TYR819TER	ACHROMATOPISIA 5

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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