AMPD1

adenosine monophosphate deaminase 1

Summary

Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

Known Variants446 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2526333819	1:115,215,752	G/T	—	uncertain significance
rs2526333843	1:115,215,755	C/G	—	uncertain significance
rs144543642	1:115,215,794	A/C	—	uncertain significance
rs142643298	1:115,215,796	C/T	—	uncertain significance
rs777802711	1:115,215,797	G/A	—	uncertain significance
rs1657881990	1:115,215,798	A/T	—	likely pathogenic
rs778481612	1:115,215,806	T/C	—	uncertain significance
rs146036570	1:115,215,808	C/A	—	uncertain significance
rs745489756	1:115,215,809	G/A	—	uncertain significance
rs1335328228	1:115,215,829	C/T	—	likely benign
rs886045093	1:115,215,832	C/T	—	uncertain significance
rs143596876	1:115,215,833	G/A	—	uncertain significance
rs2526334239	1:115,215,844	C/T	—	uncertain significance
rs2101709600	1:115,215,846	A/T	—	likely benign
rs1657883835	1:115,215,853	C/T	—	uncertain significance
rs1657883932	1:115,215,857	C/T	—	uncertain significance
rs2526334332	1:115,215,863	G/C	—	uncertain significance
rs377325321	1:115,215,866	A/G	—	uncertain significance
rs531229976	1:115,215,872	C/T	—	uncertain significance
rs776996179	1:115,215,873	G/A	—	likely benign
rs759824860	1:115,215,877	A/T	—	uncertain significance
rs1362769566	1:115,215,887	C/G	—	uncertain significance
rs552905568	1:115,215,896	A/G	—	uncertain significance
rs2526334439	1:115,215,900	G/A	—	likely benign
rs571218978	1:115,215,904	A/G	—	likely benign
rs1335023656	1:115,215,912	G/A	—	likely benign
rs2526335708	1:115,216,282	A/G	—	uncertain significance
rs576161172	1:115,216,301	C/G	—	uncertain significance
rs374697989	1:115,216,304	C/T	—	uncertain significance
rs761985788	1:115,216,305	G/A	—	likely benign
rs558444201	1:115,216,309	A/G	—	uncertain significance
rs2101710015	1:115,216,312	T/C	—	uncertain significance
rs2526335882	1:115,216,319	T/C	—	uncertain significance
rs1657899229	1:115,216,340	C/T	—	uncertain significance
rs115092288	1:115,216,359	C/T	—	uncertain significance
rs267597931	1:115,216,366	G/A	—	uncertain significance
rs778542166	1:115,216,380	T/C	—	uncertain significance
rs189530823	1:115,216,382	T/A	—	likely benign
rs757871048	1:115,216,388	G/A	—	likely benign
rs148592763	1:115,216,393	A/T	—	benign
rs774622684	1:115,216,514	C/A	—	likely benign
rs368331901	1:115,216,521	A/G	—	likely benign
rs752398358	1:115,216,522	T/C	—	likely benign
rs1657904647	1:115,216,523	A/G	—	uncertain significance
rs145328844	1:115,216,529	C/T	—	uncertain significance
rs756521034	1:115,216,533	G/C	—	likely benign
rs769163078	1:115,216,549	A/T	—	uncertain significance
rs34287100	1:115,216,557	A/G	—	benign
rs1475553694	1:115,216,558	T/C	—	uncertain significance
rs587779374	1:115,216,561	G/A	—	uncertain significance
rs182610890	1:115,216,573	A/T	—	uncertain significance
rs760814471	1:115,216,580	G/A	—	likely benign
rs34778674	1:115,216,593	G/A	—	benign
rs2526336641	1:115,216,618	T/C	—	uncertain significance
rs2526336682	1:115,216,629	T/C	—	likely benign
rs919600835	1:115,216,631	G/C	—	uncertain significance
rs565587413	1:115,216,655	T/C	—	uncertain significance
rs138019598	1:115,216,658	C/T	—	uncertain significance
rs34257411	1:115,216,659	G/A	—	benign
rs141900642	1:115,216,685	A/G	—	conflicting classifications of pathogenicity
rs1354176888	1:115,216,691	G/A	—	uncertain significance
rs2526337073	1:115,216,696	A/C	—	uncertain significance
rs776521726	1:115,216,697	C/T	—	uncertain significance
rs148515775	1:115,216,698	G/C	—	likely benign
rs775205237	1:115,216,712	G/A	—	uncertain significance
rs6701427	1:115,216,886	C/T	—	benign
rs74113504	1:115,216,891	G/T	—	benign
rs74113507	1:115,216,969	C/T	—	benign
rs374741261	1:115,217,357	A/G	—	likely benign
rs570359428	1:115,217,358	G/C	—	likely benign
rs369971812	1:115,217,359	A/C	—	likely benign
rs1308968337	1:115,217,361	C/A	—	likely benign
rs2526339069	1:115,217,366	A/G	—	likely benign
rs200717164	1:115,217,379	T/A	—	uncertain significance
rs747299499	1:115,217,391	A/G	—	likely benign
rs587779373	1:115,217,395	G/C	—	uncertain significance
rs1191384329	1:115,217,401	T/G	—	uncertain significance
rs1422341304	1:115,217,412	C/T	—	uncertain significance
rs775529261	1:115,217,420	C/T	—	uncertain significance
rs748986556	1:115,217,421	T/C	—	likely benign
rs1324199174	1:115,217,426	T/A	—	uncertain significance
rs768544368	1:115,217,430	A/G	—	likely benign
rs773842146	1:115,217,434	G/A	—	uncertain significance
rs1570836949	1:115,217,439	G/A	—	likely benign
rs767292629	1:115,217,441	C/T	—	uncertain significance
rs2101711121	1:115,217,444	C/T	—	uncertain significance
rs150645738	1:115,217,452	C/T	—	conflicting classifications of pathogenicity
rs760410776	1:115,217,464	C/T	—	uncertain significance
rs377185948	1:115,217,465	G/A	—	uncertain significance
rs751714477	1:115,217,467	A/T	—	uncertain significance
rs781393982	1:115,217,476	G/A	—	uncertain significance
rs370481249	1:115,217,486	C/G	—	uncertain significance
rs779833873	1:115,217,488	C/T	—	uncertain significance
rs749286592	1:115,217,489	G/A	—	uncertain significance
rs771812174	1:115,217,513	A/G	—	likely benign
rs6679869	1:115,217,727	G/C	—	benign
rs1311864516	1:115,218,150	C/G	—	uncertain significance
rs780245321	1:115,218,168	C/A	—	likely benign
rs1657954756	1:115,218,171	C/G	—	uncertain significance
rs747903201	1:115,218,193	T/C	—	uncertain significance

Showing 100 of 446 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.