Phosphodiesterase 6C, cGMP-Specific, Cone, Alpha-Prime

Alternative Names

PDE6C
PDEA2

Length

53,474 bases

No. of Exons

No. of isoforms

Protein Name

Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'

Molecular Mass

99147 Da

Amino Acid Count

858

Genomic Location

chr10:93,612,537-93,666,010

Gene Map Locus

10q23.33

Description

This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [From RefSeq]

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_006204.3:c.1613T>C	Saudi Arabia	NC_000010.11:g.93640200T>C	Likely Pathogenic, Uncertain Significance	Likely Pathogenic	Leber Congenital Amaurosis 1	NG_016752.1:g.32613T>C; NM_006204.3:c.1613T>C; NP_006195.3:p.Phe538Ser	786205462	191011
NM_006204.4:c.1946T>C	Saudi Arabia	NC_000010.11:g.93655770T>C	Likely Pathogenic	Likely Pathogenic	Cone Dystrophy 4	NG_016752.1:g.48183T>C; NM_006204.4:c.1946T>C; NP_006195.3:p.Ile649Thr	786205463	191012
NM_006204.4:c.2351G>T	Lebanon	chr10:93662627		Likely Pathogenic		NG_016752.1:g.55040G>t; NM_006204.4:c.2351G>T; NP_006195.3:p.Cys784Phe	1451804778
NM_006204.4:c.939+5G>A	Saudi Arabia	NC_000010.11:g.93625654G>A	Likely Pathogenic, Pathogenic	Pathogenic	Cone Dystrophy 4	NG_016752.1:g.18067G>A; NM_006204.4:c.939+5G>A; NP_006195.3:p.?	374805348	191010

Download Table

External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=PDE6C https://www.ncbi.nlm.nih.gov/gene/5146

Contributors

Pratibha Nair: 21.10.2020

Edit History

Pratibha Nair: 21.10.2020

Back to search Result