MYLK3

myosin light chain kinase 3

Summary

Phosphorylation of cardiac myosin heavy chains (see MYH7B, MIM 609928) and light chains (see MYL2, MIM 160781) by a kinase, such as MYLK3, potentiates the force and rate of cross-bridge recruitment in cardiac myocytes (Chan et al., 2008 [PubMed 18202317]).[supplied by OMIM, Jul 2008]

Known Variants657 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2548897054	16:46,741,616	T/G	—	uncertain significance
rs746997455	16:46,741,620	G/A	—	uncertain significance
rs151025183	16:46,741,623	G/A	—	uncertain significance
rs1966640114	16:46,741,624	A/C	—	uncertain significance
rs147929012	16:46,741,626	G/T	—	likely benign
rs1326359679	16:46,741,627	T/C	—	uncertain significance
rs746021689	16:46,741,634	T/C	—	likely benign
rs762775841	16:46,741,641	A/G	—	uncertain significance
rs769993017	16:46,741,651	C/T	—	uncertain significance
rs2548897096	16:46,741,662	A/C	—	uncertain significance
rs775831910	16:46,741,663	C/T	—	uncertain significance
rs749586260	16:46,741,666	A/G	—	uncertain significance
rs1464405842	16:46,741,672	G/A	—	uncertain significance
rs2143012170	16:46,741,679	G/C	—	likely benign
rs376282582	16:46,741,682	G/A	—	likely benign
rs1386983337	16:46,741,685	A/C	—	likely benign
rs1966641275	16:46,741,686	G/A	—	likely benign
rs1966641313	16:46,741,688	A/G	—	likely benign
rs375300510	16:46,741,694	T/G	—	benign
rs2548897644	16:46,743,443	C/A	—	likely benign
rs1966661114	16:46,743,450	C/T	—	uncertain significance
rs757189674	16:46,743,457	T/C	—	likely benign
rs2548897658	16:46,743,467	G/A	—	uncertain significance
rs774352112	16:46,743,474	A/G	—	uncertain significance
rs2548897662	16:46,743,477	T/C	—	uncertain significance
rs1966661534	16:46,743,487	T/G	—	likely benign
rs2143012377	16:46,743,492	G/C	—	uncertain significance
rs2548897671	16:46,743,496	T/C	—	likely benign
rs780099005	16:46,743,503	C/T	—	uncertain significance
rs374756967	16:46,743,504	G/A	—	uncertain significance
rs768849408	16:46,743,510	T/C	—	uncertain significance
rs372423023	16:46,743,514	T/C	—	likely benign
rs375113235	16:46,743,518	G/C	—	uncertain significance
rs1324199354	16:46,743,522	C/T	—	uncertain significance
rs371796025	16:46,743,532	C/G	—	uncertain significance
rs1177545181	16:46,743,547	C/T	—	likely benign
rs113145242	16:46,743,548	T/G	—	conflicting classifications of pathogenicity
rs1471402713	16:46,743,549	C/T	—	uncertain significance
rs138136838	16:46,743,550	G/A	—	likely benign
rs1966662585	16:46,743,559	G/A	—	likely benign
rs2548897702	16:46,743,560	C/T	—	uncertain significance
rs1429320327	16:46,743,566	G/A	—	uncertain significance
rs1356768072	16:46,743,583	G/C	—	uncertain significance
rs2143012390	16:46,743,585	T/G	—	uncertain significance
rs1462870471	16:46,743,586	G/C	—	uncertain significance
rs2548897720	16:46,743,593	C/G	—	likely benign
rs2548897723	16:46,743,598	A/G	—	likely benign
rs1030668147	16:46,743,599	G/C	—	likely benign
rs1270809501	16:46,744,539	T/A	—	likely benign
rs199794780	16:46,744,544	G/C	—	likely benign
rs1388652902	16:46,744,556	C/T	—	uncertain significance
rs2548898001	16:46,744,562	C/T	—	uncertain significance
rs2548898002	16:46,744,563	C/G	—	likely benign
rs769127734	16:46,744,570	C/T	—	uncertain significance
rs372617133	16:46,744,571	G/A	—	uncertain significance
rs1966673256	16:46,744,573	G/C	—	uncertain significance
rs762435247	16:46,744,577	C/G	—	uncertain significance
rs1296637610	16:46,744,581	G/A	—	likely benign
rs768340016	16:46,744,585	T/C	—	uncertain significance
rs2143012504	16:46,744,591	T/G	—	uncertain significance
rs527308018	16:46,744,596	C/T	—	likely benign
rs375441580	16:46,744,597	G/A	—	uncertain significance
rs1450685062	16:46,744,602	C/T	—	likely benign
rs1218744680	16:46,744,604	C/G	—	uncertain significance
rs750306971	16:46,744,608	A/T	—	uncertain significance
rs201767714	16:46,744,612	G/A	—	uncertain significance
rs753941961	16:46,744,614	G/T	—	uncertain significance
rs1172266113	16:46,744,620	A/G	—	likely benign
rs755058936	16:46,744,631	A/G	—	uncertain significance
rs779161657	16:46,744,634	T/A	—	uncertain significance
rs752995801	16:46,744,636	C/T	—	uncertain significance
rs758782017	16:46,744,640	T/G	—	uncertain significance
rs200515683	16:46,744,645	A/G	—	uncertain significance
rs1966674289	16:46,744,647	G/A	—	likely benign
rs61745727	16:46,744,650	A/G	—	likely benign
rs2548898083	16:46,744,652	T/C	—	uncertain significance
rs375224034	16:46,744,654	A/C	—	uncertain significance
rs766320293	16:46,744,672	T/C	—	uncertain significance
rs1355220180	16:46,744,673	C/T	—	uncertain significance
rs752905853	16:46,744,676	C/T	—	uncertain significance
rs2548898124	16:46,744,684	G/A	—	uncertain significance
rs754454223	16:46,744,685	G/C	—	uncertain significance
rs146268415	16:46,744,692	G/T	—	likely benign
rs763181218	16:46,744,700	G/C	—	uncertain significance
rs369405932	16:46,744,701	T/A	—	uncertain significance
rs114652511	16:46,744,709	A/G	—	benign
rs767786460	16:46,744,712	G/C	—	likely benign
rs536299564	16:46,744,715	A/T	—	likely benign
rs372959225	16:46,744,719	G/A	—	likely benign
rs2548898821	16:46,746,544	G/A	—	likely benign
rs1355458570	16:46,746,548	C/T	—	likely benign
rs2143012724	16:46,746,563	A/T	—	uncertain significance
rs778457659	16:46,746,564	T/C	—	uncertain significance
rs780092985	16:46,746,565	G/A	—	likely benign
rs749253362	16:46,746,568	G/T	—	likely benign
rs917437243	16:46,746,569	G/A	—	uncertain significance
rs1341314005	16:46,746,576	C/T	—	uncertain significance
rs774291746	16:46,746,578	C/T	—	uncertain significance
rs1263790395	16:46,746,579	C/G	—	uncertain significance
rs2548898847	16:46,746,580	C/T	—	likely benign

Showing 100 of 657 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.