PYGL

glycogen phosphorylase L

Summary

This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]

Known Variants296 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs770977861	14:51,324,826	A/T	—	uncertain significance
rs886050536	14:51,371,981	A/G	—	uncertain significance
rs190588867	14:51,372,032	C/T	—	uncertain significance
rs1042266	14:51,372,103	C/G	—	benign
rs147863207	14:51,372,114	T/A	—	uncertain significance
rs78558135	14:51,372,120	T/C	—	likely benign
rs1265343182	14:51,372,152	C/T	—	likely benign
rs2503479112	14:51,372,171	A/C	—	likely pathogenic
rs755274555	14:51,372,173	G/A	—	uncertain significance
rs756205397	14:51,372,187	G/A	—	conflicting classifications of pathogenicity
rs113993988	14:51,372,193	A/G	missense variant	not provided
rs547527610	14:51,372,207	C/T	—	uncertain significance
rs998126774	14:51,372,208	G/A	—	uncertain significance
rs746208990	14:51,372,224	C/T	—	likely benign
rs760187622	14:51,372,228	G/A	—	pathogenic
rs34313873	14:51,372,238	T/A	—	likely benign
rs368714229	14:51,372,283	A/G	—	likely benign
rs539618096	14:51,372,286	A/G	—	benign
rs886050537	14:51,372,289	T/C	—	uncertain significance
rs2275466	14:51,372,315	C/T	—	benign
rs1959527	14:51,372,333	G/A	—	benign
rs765783288	14:51,375,010	A/G	—	likely benign
rs1596030395	14:51,375,025	A/G	—	likely benign
rs2142785955	14:51,375,027	A/G	—	uncertain significance
rs747350501	14:51,375,033	C/T	—	uncertain significance
rs754681161	14:51,375,034	G/A	—	likely benign
rs374953847	14:51,375,075	A/G	—	likely benign
rs76731344	14:51,375,127	T/C	—	likely benign
rs2356535	14:51,375,250	T/G	—	benign
rs369894448	14:51,375,527	A/G	—	benign
rs763014615	14:51,375,632	T/C	—	uncertain significance
rs766875279	14:51,375,636	G/T	—	uncertain significance
rs759925909	14:51,375,642	G/A	—	uncertain significance
rs767910015	14:51,375,647	G/A	—	uncertain significance
rs141992300	14:51,375,654	A/G	—	conflicting classifications of pathogenicity
rs766339005	14:51,375,664	T/C	—	likely benign
rs2142786759	14:51,375,666	C/T	—	uncertain significance
rs535447490	14:51,375,669	C/T	—	uncertain significance
rs756773559	14:51,375,670	G/A	—	likely benign
rs1466615308	14:51,375,677	T/G	—	likely benign
rs879201864	14:51,375,683	A/T	—	likely benign
rs8004768	14:51,375,797	G/T	—	benign
rs8004788	14:51,375,826	T/C	—	benign
rs137880110	14:51,376,579	A/G	—	likely benign
rs780034082	14:51,376,596	A/G	—	likely benign
rs1368182301	14:51,376,611	A/G	—	likely pathogenic
rs1596031605	14:51,376,627	A/G	—	likely benign
rs745945278	14:51,376,635	C/T	—	uncertain significance
rs776011553	14:51,376,648	C/T	—	uncertain significance
rs35110875	14:51,376,678	A/G	—	benign
rs555408487	14:51,376,680	C/T	—	uncertain significance
rs2503486792	14:51,376,706	C/T	—	likely pathogenic
rs368758632	14:51,376,707	C/T	—	uncertain significance
rs539898848	14:51,376,719	C/G	—	pathogenic
rs781089811	14:51,376,720	G/A	—	likely benign
rs767156606	14:51,376,722	T/A	—	likely pathogenic
rs2142788432	14:51,376,724	G/A	—	uncertain significance
rs138483823	14:51,376,728	G/C	—	conflicting classifications of pathogenicity
rs2050377435	14:51,376,734	C/G	—	uncertain significance
rs113993987	14:51,376,748	T/G	missense variant	uncertain significance
rs113993986	14:51,376,766	G/A	missense variant	pathogenic
rs113993985	14:51,376,767	A/T	missense variant	not provided
rs113993984	14:51,376,773	C/T	missense variant	uncertain significance
rs15669	14:51,376,774	G/A	—	benign
rs1241000496	14:51,376,776	T/G	—	uncertain significance
rs148777213	14:51,376,795	C/T	—	likely benign
rs142483613	14:51,376,809	T/C	—	conflicting classifications of pathogenicity
rs773029579	14:51,376,827	G/C	—	conflicting classifications of pathogenicity
rs770476567	14:51,376,835	A/T	—	likely benign
rs2275464	14:51,376,880	T/C	—	benign
rs998166878	14:51,378,441	G/T	—	likely benign
rs150547274	14:51,378,470	G/T	stop gained	pathogenic
rs556404496	14:51,378,492	T/G	—	uncertain significance
rs140296036	14:51,378,497	C/T	—	conflicting classifications of pathogenicity
rs755141133	14:51,378,515	G/C	—	uncertain significance
rs35026927	14:51,378,517	C/G	missense variant	pathogenic
rs113993983	14:51,378,522	T/A	missense variant	not provided
rs1064796663	14:51,378,532	C/A	—	uncertain significance
rs374560108	14:51,378,533	T/C	—	conflicting classifications of pathogenicity
rs745556673	14:51,378,548	C/G	—	likely benign
rs768588903	14:51,378,558	A/T	—	uncertain significance
rs773030482	14:51,378,579	C/T	—	uncertain significance
rs767847163	14:51,378,586	C/T	—	likely pathogenic
rs372338710	14:51,378,598	A/T	—	conflicting classifications of pathogenicity
rs75220125	14:51,378,610	C/T	—	likely benign
rs375744102	14:51,378,677	T/C	—	likely benign
rs189147741	14:51,378,685	A/T	—	likely benign
rs1453132561	14:51,378,688	C/T	—	likely benign
rs141456201	14:51,378,699	A/G	—	likely benign
rs751175089	14:51,378,701	C/T	—	conflicting classifications of pathogenicity
rs754629447	14:51,378,703	C/A	—	likely pathogenic
rs1269501651	14:51,378,769	G/A	—	likely benign
rs780893472	14:51,378,864	G/A	—	conflicting classifications of pathogenicity
rs113993982	14:51,378,873	C/T	splice region variant	pathogenic
rs755485474	14:51,378,884	C/T	—	conflicting classifications of pathogenicity
rs144989341	14:51,378,885	G/A	—	conflicting classifications of pathogenicity
rs375136222	14:51,378,894	T/C	—	uncertain significance
rs368171220	14:51,378,911	C/G	—	uncertain significance
rs149096315	14:51,378,913	G/A	—	pathogenic
rs143287753	14:51,378,914	T/C	—	likely benign

Showing 100 of 296 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.