Results for the protein: O95622

Results for the Protein: O95622

118572619

111

ADCY5

NCBI, UniProt

ADCY5_HUMAN RecName: Full=Adenylate cyclase type 5; AltName: Full=ATP pyrophosphate-lyase 5; AltName: Full=Adenylate cyclase type V; AltName: Full=Adenylyl cyclase 5

Known Diseases associated with this Protein:
DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA
DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (FDFM)

2

0

1

0

1

Tips:

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Default View: CyaA - COG2114 CYCc - smart00044 Guanylate_cyc - pfam00211 CHD - cd07302 Nucleotidyl_cyc_III - cd07556 DUF1053 - pfam06327	Swiss-Prot Protein: O95622 Identical to: NP_899200 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Nucleotidyl_cyc_III	cd07556	1.1e-67	467	605
CHD	cd07302	4.3e-53	1069	1254
Nucleotidyl_cyc_III	cd07556	1.5e-42	1069	1219
CyaA	COG2114	1.9e-24	418	657
Guanylate_cyc	pfam00211	2.1e-83	460	643
CyaA	COG2114	1.2e-06	1033	1261
Guanylate_cyc	pfam00211	4.4e-86	1062	1255
CYCc	smart00044	5.5e-69	423	623
DUF1053	pfam06327	1.2e-45	668	761
CYCc	smart00044	3.8e-55	1031	1237

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_068821	Disease	p.ALA726THR	Dyskinesia, familial, with facial myokymia (FDFM)
OMIM	600293.0001	Disease	p.ALA726THR	DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA

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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