DDC

dopa decarboxylase

Summary

The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2011]

Known Variants508 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11575553	7:50,526,219	G/A	—	benign
rs11575552	7:50,526,246	A/G	—	benign
rs11575551	7:50,526,263	A/G	—	benign
rs2042175929	7:50,526,286	C/T	—	uncertain significance
rs886062369	7:50,526,405	G/A	—	uncertain significance
rs886062370	7:50,526,444	A/C	—	uncertain significance
rs2042178275	7:50,526,447	G/A	—	uncertain significance
rs187404471	7:50,526,524	C/G	—	uncertain significance
rs560640944	7:50,526,537	G/T	—	likely benign
rs2060762	7:50,529,384	A/G	intron variant	—
rs2242041	7:50,529,449	C/G	intron variant	—
rs11575545	7:50,530,635	T/G	—	benign
rs11575544	7:50,530,762	G/A	—	benign
rs11575543	7:50,530,869	G/A	—	benign
rs2042321931	7:50,530,935	C/A	—	uncertain significance
rs776354811	7:50,530,936	C/T	—	uncertain significance
rs200450773	7:50,530,937	T/C	—	conflicting classifications of pathogenicity
rs769418481	7:50,530,945	C/T	—	uncertain significance
rs148472208	7:50,530,946	G/A	—	uncertain significance
rs2153532982	7:50,530,951	A/C	—	uncertain significance
rs762954873	7:50,530,952	C/T	—	uncertain significance
rs766373242	7:50,530,953	G/A	—	likely benign
rs759389542	7:50,530,955	C/T	—	uncertain significance
rs892676540	7:50,530,956	G/A	—	likely benign
rs528137159	7:50,530,959	C/T	—	likely benign
rs752911552	7:50,530,960	G/A	—	uncertain significance
rs2042323799	7:50,530,962	C/T	—	likely benign
rs372970018	7:50,530,980	C/G	—	uncertain significance
rs757662816	7:50,530,983	G/C	—	likely benign
rs1025539290	7:50,530,986	C/T	—	likely benign
rs11575542	7:50,530,987	C/G	—	pathogenic
rs746158022	7:50,530,988	G/A	—	uncertain significance
rs1286803002	7:50,530,993	A/C	—	uncertain significance
rs190468400	7:50,530,995	A/C	—	uncertain significance
rs780345084	7:50,531,004	T/C	—	likely benign
rs1049290384	7:50,531,005	T/A	—	uncertain significance
rs747784661	7:50,531,007	C/T	—	likely benign
rs772812241	7:50,531,010	C/T	—	likely benign
rs147562019	7:50,531,011	G/A	—	uncertain significance
rs770717871	7:50,531,014	C/T	—	uncertain significance
rs142110773	7:50,531,015	G/A	—	pathogenic
rs1554411234	7:50,531,020	C/A	—	likely pathogenic
rs767329849	7:50,531,032	C/T	—	pathogenic
rs775312348	7:50,531,033	G/A	—	pathogenic
rs2042326828	7:50,531,048	C/A	—	uncertain significance
rs779029594	7:50,531,061	T/C	—	likely benign
rs753862164	7:50,531,065	A/G	—	uncertain significance
rs199872159	7:50,531,076	T/A	—	uncertain significance
rs2153533017	7:50,531,086	C/T	—	uncertain significance
rs750932088	7:50,531,092	A/C	—	uncertain significance
rs958485576	7:50,531,095	C/T	—	uncertain significance
rs984449557	7:50,531,107	G/A	—	uncertain significance
rs758882964	7:50,531,108	C/T	—	uncertain significance
rs2534944824	7:50,531,115	C/T	—	likely benign
rs2534944889	7:50,531,121	G/A	—	likely benign
rs2534944935	7:50,531,127	A/G	—	likely benign
rs780538527	7:50,531,128	C/T	—	uncertain significance
rs752006634	7:50,531,129	C/A	—	uncertain significance
rs755780775	7:50,531,133	G/A	—	likely benign
rs748679925	7:50,531,139	T/C	—	uncertain significance
rs770471152	7:50,531,146	A/G	—	likely benign
rs745796650	7:50,531,149	G/A	—	likely benign
rs11575541	7:50,531,267	G/A	—	likely benign
rs11575523	7:50,534,754	T/C	—	benign
rs2534966579	7:50,534,892	T/C	—	likely benign
rs1237015243	7:50,534,894	G/A	—	likely benign
rs113510841	7:50,534,901	T/C	—	likely benign
rs1302258110	7:50,534,902	G/A	—	likely benign
rs753516133	7:50,534,903	T/C	—	likely benign
rs376967659	7:50,534,907	C/G	—	uncertain significance
rs1040756254	7:50,534,912	C/T	—	uncertain significance
rs756907276	7:50,534,919	C/T	—	uncertain significance
rs542063660	7:50,534,920	G/A	—	pathogenic
rs2042419194	7:50,534,926	A/C	—	pathogenic
rs746737558	7:50,534,936	C/T	—	uncertain significance
rs2153533796	7:50,534,937	A/T	—	uncertain significance
rs2534967130	7:50,534,948	C/G	—	likely benign
rs932307101	7:50,534,952	C/G	—	uncertain significance
rs144293557	7:50,534,964	C/T	—	uncertain significance
rs373529153	7:50,534,965	G/A	—	uncertain significance
rs773297272	7:50,534,969	A/T	—	uncertain significance
rs200295408	7:50,534,973	T/C	—	uncertain significance
rs185356649	7:50,534,975	G/A	—	likely benign
rs752108612	7:50,534,976	C/T	—	uncertain significance
rs375309190	7:50,534,977	G/A	—	uncertain significance
rs1025795093	7:50,534,987	C/T	—	likely benign
rs369370213	7:50,534,990	A/G	—	likely benign
rs2042421064	7:50,534,999	G/A	—	likely benign
rs2534967671	7:50,535,008	G/T	—	likely benign
rs756891812	7:50,535,011	A/G	—	likely benign
rs757905175	7:50,535,028	G/A	—	likely benign
rs754863124	7:50,537,754	A/C	—	likely benign
rs147937771	7:50,537,775	C/T	—	uncertain significance
rs201783949	7:50,537,776	G/A	—	uncertain significance
rs2534986138	7:50,537,777	G/A	—	likely benign
rs755858178	7:50,537,779	T/C	—	uncertain significance
rs777681757	7:50,537,788	G/A	—	pathogenic
rs2534986453	7:50,537,804	A/T	—	pathogenic
rs886062371	7:50,537,805	T/C	—	uncertain significance
rs1017626453	7:50,537,826	A/G	—	uncertain significance

Showing 100 of 508 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.