MASP1

MBL associated serine protease 1

Summary

This gene encodes a serine protease that functions as a component of the lectin pathway of complement activation. The complement pathway plays an essential role in the innate and adaptive immune response. The encoded protein is synthesized as a zymogen and is activated when it complexes with the pathogen recognition molecules of lectin pathway, the mannose-binding lectin and the ficolins. This protein is not directly involved in complement activation but may play a role as an amplifier of complement activation by cleaving complement C2 or by activating another complement serine protease, MASP-2. The encoded protein is also able to cleave fibrinogen and factor XIII and may may be involved in coagulation. A splice variant of this gene which lacks the serine protease domain functions as an inhibitor of the complement pathway. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]

Known Variants268 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs3852053	3:186,937,200	T/A	—	—
rs17040	3:186,937,568	A/G	—	benign
rs748494624	3:186,937,885	G/A	—	likely pathogenic
rs753779999	3:186,937,975	G/A	—	likely benign
rs1353851726	3:186,938,001	A/G	—	uncertain significance
rs1711959710	3:186,938,016	C/A	—	uncertain significance
rs35472527	3:186,938,030	C/T	—	likely benign
rs2474078190	3:186,938,057	A/C	—	likely benign
rs73191704	3:186,938,234	A/C	—	likely benign
rs370966073	3:186,938,284	C/T	—	benign
rs9864944	3:186,938,635	C/G	—	benign
rs111390821	3:186,938,699	C/G	—	benign
rs151279132	3:186,938,716	C/T	—	likely benign
rs75655422	3:186,938,773	C/A	—	likely benign
rs72549176	3:186,938,818	C/T	—	likely benign
rs767834819	3:186,938,821	A/T	—	uncertain significance
rs779648802	3:186,938,892	A/G	—	uncertain significance
rs140491860	3:186,938,912	G/A	—	uncertain significance
rs3733001	3:186,938,956	C/T	—	benign
rs3733003	3:186,939,191	T/A	—	benign
rs2287366	3:186,940,797	G/T	—	benign
rs1712167142	3:186,940,911	T/C	—	uncertain significance
rs373254538	3:186,940,914	C/T	—	likely pathogenic
rs768987275	3:186,940,936	C/A	—	uncertain significance
rs140576484	3:186,940,937	C/T	—	uncertain significance
rs148556944	3:186,940,950	G/C	—	uncertain significance
rs900722298	3:186,940,980	C/T	—	likely benign
rs534164700	3:186,942,816	C/T	—	likely benign
rs72549169	3:186,943,038	G/A	—	likely benign
rs13322090	3:186,943,150	A/G	—	benign
rs771034314	3:186,943,151	C/T	—	uncertain significance
rs72549170	3:186,943,206	G/A	—	likely benign
rs148698841	3:186,943,250	C/T	—	uncertain significance
rs374977699	3:186,943,251	G/A	—	likely benign
rs1474876035	3:186,943,254	G/A	—	likely benign
rs2108502554	3:186,943,259	G/C	—	uncertain significance
rs2474090456	3:186,943,273	T/C	—	uncertain significance
rs569570820	3:186,943,279	C/T	—	likely benign
rs28945073	3:186,943,280	G/A	—	likely benign
rs780880572	3:186,943,291	T/C	—	uncertain significance
rs12487320	3:186,943,889	G/A	—	benign
rs559086533	3:186,944,197	A/G	—	uncertain significance
rs28945070	3:186,944,222	T/C	—	conflicting classifications of pathogenicity
rs775254504	3:186,944,240	G/A	—	uncertain significance
rs2474093036	3:186,944,250	A/T	—	uncertain significance
rs140271320	3:186,944,261	C/G	—	uncertain significance
rs375712766	3:186,944,271	G/A	—	likely benign
rs751292648	3:186,944,285	C/T	—	uncertain significance
rs369648641	3:186,944,288	C/T	—	uncertain significance
rs138989954	3:186,944,313	G/C	—	conflicting classifications of pathogenicity
rs72549286	3:186,944,326	C/T	—	likely benign
rs149017616	3:186,944,490	A/G	—	likely benign
rs16861755	3:186,947,228	G/A	—	benign
rs67909903	3:186,947,281	T/C	—	benign
rs16861758	3:186,947,358	C/G	—	likely benign
rs850318	3:186,947,410	C/T	—	benign
rs72549161	3:186,947,411	T/C	—	likely benign
rs150028177	3:186,947,631	C/T	—	uncertain significance
rs754485637	3:186,947,661	C/T	—	uncertain significance
rs753799983	3:186,947,664	G/A	—	uncertain significance
rs850317	3:186,947,801	C/T	—	benign
rs16861761	3:186,947,874	G/C	—	benign
rs850313	3:186,953,226	G/C	—	benign
rs78393224	3:186,953,244	A/T	—	likely benign
rs67143992	3:186,953,321	T/C	—	benign
rs746844321	3:186,953,476	C/T	—	uncertain significance
rs562091536	3:186,953,480	C/T	—	likely benign
rs952140168	3:186,953,490	C/T	—	likely benign
rs115897757	3:186,953,491	T/C	—	uncertain significance
rs1713104740	3:186,953,570	C/T	—	uncertain significance
rs745444812	3:186,953,583	G/T	—	uncertain significance
rs142830133	3:186,953,598	C/T	—	likely benign
rs533236263	3:186,953,600	C/T	—	pathogenic
rs1085307080	3:186,953,625	C/T	—	uncertain significance
rs1713115213	3:186,953,647	A/G	—	uncertain significance
rs2474109616	3:186,953,657	A/G	—	uncertain significance
rs387906754	3:186,953,662	C/T	missense variant	pathogenic
rs756893343	3:186,953,666	C/T	—	uncertain significance
rs200393551	3:186,953,667	G/A	—	likely benign
rs757937866	3:186,953,683	G/T	—	uncertain significance
rs139958520	3:186,953,700	G/A	—	likely benign
rs143503196	3:186,953,727	C/T	—	likely benign
rs146714674	3:186,953,728	G/A	—	conflicting classifications of pathogenicity
rs765808321	3:186,953,732	C/T	—	uncertain significance
rs115022399	3:186,953,749	C/T	—	uncertain significance
rs387906753	3:186,953,771	A/G	missense variant	pathogenic
rs770159554	3:186,953,777	C/T	—	uncertain significance
rs775726494	3:186,953,790	G/A	—	likely benign
rs850312	3:186,953,808	C/T	—	benign
rs143010878	3:186,953,827	C/T	—	uncertain significance
rs769109077	3:186,953,828	G/A	—	uncertain significance
rs7652842	3:186,953,835	A/G	—	likely benign
rs371311188	3:186,953,869	T/C	—	uncertain significance
rs2108513487	3:186,953,879	C/T	—	uncertain significance
rs549330397	3:186,953,880	C/T	stop gained	pathogenic
rs764178335	3:186,953,885	C/T	—	uncertain significance
rs753546269	3:186,953,886	G/A	—	conflicting classifications of pathogenicity
rs111908734	3:186,953,906	G/C	—	uncertain significance
rs3821805	3:186,953,913	C/T	—	benign
rs1579481439	3:186,953,927	C/G	—	uncertain significance

Showing 100 of 268 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.