Results for the protein: P16499

Results for the Protein: P16499

215274230

5145

PDE6A

NCBI, UniProt

PDE6A_HUMAN RecName: Full=Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha; Short=GMP-PDE alpha; AltName: Full=PDE V-B1; Flags: Precursor

Known Diseases associated with this Protein:
RETINITIS PIGMENTOSA 43
RETINITIS PIGMENTOSA 43 (RP43)

9

8

4

2

11

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Default View: GAF - pfam01590 GAF - smart00065 HDc - smart00471 PDEase_I - pfam00233 HDc - cd00077	Swiss-Prot Protein: P16499 Identical to: NP_000431 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GAF	pfam01590	1.3e-16	73	222
GAF	pfam01590	1.3e-20	254	431
PDEase_I	pfam00233	1.2e-159	558	806
GAF	smart00065	4.3e-26	73	232
GAF	smart00065	2.3e-54	254	441
HDc	smart00471	3.7e-19	556	734

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs35431421	Polymorphism	p.ALA145THR	N/A
Swiss-Prot	VAR_025460	Disease	p.ARG102HIS	Retinitis pigmentosa 43 (RP43)
Swiss-Prot	VAR_025461	Disease	p.ARG102SER	Retinitis pigmentosa 43 (RP43)
dbSNP	rs10057110	Polymorphism	p.ASN216SER	N/A
Swiss-Prot	VAR_047731	Polymorphism	p.GLN492HIS	N/A
Swiss-Prot	VAR_025466	Disease	p.GLN569LYS	Retinitis pigmentosa 43 (RP43)
Swiss-Prot	VAR_025469	Polymorphism	p.GLY850VAL	N/A
Swiss-Prot	VAR_025468	Polymorphism	p.LYS827GLN	N/A
Swiss-Prot	VAR_025464	Polymorphism	p.PRO293LEU	N/A
Swiss-Prot	VAR_006049	Disease	p.SER344ARG	Retinitis pigmentosa 43 (RP43)
Swiss-Prot	VAR_025467	Disease	p.SER573PRO	Retinitis pigmentosa 43 (RP43)
Swiss-Prot	VAR_025463	Polymorphism	p.VAL277ALA	N/A
Swiss-Prot	VAR_025465	Polymorphism	p.VAL391MET	N/A
OMIM	180071.0002	Disease	p.SER344ARG	RETINITIS PIGMENTOSA 43
OMIM	180071.0003	Disease	p.TRP561TER	RETINITIS PIGMENTOSA 43
OMIM	180071.0001	Disease	p.TYR583TER	RETINITIS PIGMENTOSA 43
OMIM	180071.0004	Disease	p.VAL685MET	RETINITIS PIGMENTOSA 43

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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