MME

membrane metalloendopeptidase

Summary

The protein encoded by this gene is a type II transmembrane glycoprotein and a common acute lymphocytic leukemia antigen that is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). The encoded protein is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. This protein is not restricted to leukemic cells, however, and is found on a variety of normal tissues. The protein is a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. [provided by RefSeq, Aug 2017]

Known Variants541 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs78022684	3:154,746,038	G/A	intron variant	—
rs989692	3:154,801,365	T/A	—	—
rs145131802	3:154,801,635	C/T	—	likely benign
rs3773905	3:154,801,737	G/A	—	benign
rs56208271	3:154,801,832	A/G	—	benign
rs148774018	3:154,801,930	A/G	—	likely benign
rs1085307704	3:154,801,946	G/T	—	uncertain significance
rs746439998	3:154,801,967	C/G	—	pathogenic
rs61762319	3:154,801,978	G/A	—	benign
rs370911005	3:154,801,981	G/A	—	uncertain significance
rs762748390	3:154,801,982	A/G	—	uncertain significance
rs751490017	3:154,801,994	T/C	—	uncertain significance
rs142421146	3:154,801,998	C/T	—	likely benign
rs199935778	3:154,802,003	C/A	—	uncertain significance
rs755684422	3:154,802,009	C/T	—	uncertain significance
rs2473092617	3:154,802,011	A/G	—	uncertain significance
rs148334392	3:154,802,012	A/G	—	uncertain significance
rs141402067	3:154,802,022	G/C	—	uncertain significance
rs150836510	3:154,802,023	C/T	—	pathogenic
rs201850855	3:154,802,024	G/A	—	uncertain significance
rs886039755	3:154,802,027	G/A	—	pathogenic
rs199920139	3:154,802,028	G/T	—	uncertain significance
rs201012179	3:154,802,034	A/G	—	likely benign
rs61762320	3:154,802,052	G/A	—	likely benign
rs201171168	3:154,802,053	G/A	—	uncertain significance
rs1715451885	3:154,802,059	G/A	—	uncertain significance
rs142671126	3:154,802,068	C/G	—	uncertain significance
rs1715453434	3:154,802,073	C/G	—	likely benign
rs201190279	3:154,802,080	G/A	—	uncertain significance
rs1062488	3:154,802,087	C/A	—	uncertain significance
rs757010716	3:154,802,090	T/C	—	uncertain significance
rs200338110	3:154,802,094	C/T	—	likely benign
rs139929993	3:154,802,095	G/A	—	uncertain significance
rs946908279	3:154,802,102	A/G	—	uncertain significance
rs2473093501	3:154,802,110	T/G	—	uncertain significance
rs201694291	3:154,802,111	A/G	—	uncertain significance
rs202173429	3:154,802,112	C/T	—	likely benign
rs200215811	3:154,802,113	G/A	—	uncertain significance
rs2473093626	3:154,802,117	G/A	—	likely pathogenic
rs1446583831	3:154,802,118	T/C	—	likely pathogenic
rs201140768	3:154,802,124	A/G	—	uncertain significance
rs151294289	3:154,802,129	C/T	—	likely benign
rs2473093752	3:154,802,130	A/T	—	likely benign
rs56040366	3:154,802,131	C/T	—	likely benign
rs28617565	3:154,802,742	T/G	—	benign
rs780349049	3:154,802,828	A/G	—	likely benign
rs199801768	3:154,802,831	T/G	—	likely benign
rs188259964	3:154,802,833	C/A	—	likely benign
rs1388013925	3:154,802,835	C/T	—	likely benign
rs201622614	3:154,802,837	C/T	—	likely benign
rs199926724	3:154,802,839	T/C	—	benign
rs35926730	3:154,802,849	T/C	—	likely benign
rs1451085211	3:154,802,876	A/C	—	likely benign
rs201910473	3:154,802,880	T/C	—	uncertain significance
rs771899867	3:154,802,893	G/T	—	likely benign
rs2473097672	3:154,802,898	T/C	—	likely benign
rs143147554	3:154,802,901	C/T	—	benign
rs73875803	3:154,802,902	G/A	—	likely benign
rs4607069	3:154,802,920	T/C	—	benign
rs61762323	3:154,803,016	T/G	—	likely benign
rs1232659357	3:154,807,654	G/C	—	likely benign
rs1836915	3:154,809,102	T/C	intron variant	—
rs62279989	3:154,819,950	C/T	intron variant	—
rs73875813	3:154,832,679	G/A	—	likely benign
rs762617814	3:154,832,763	T/C	—	likely benign
rs79413638	3:154,832,768	T/G	—	benign
rs201829141	3:154,832,779	G/C	—	likely benign
rs1274566455	3:154,832,780	C/T	—	uncertain significance
rs201692212	3:154,832,788	C/T	—	pathogenic
rs149683309	3:154,832,803	A/G	—	uncertain significance
rs996780520	3:154,832,810	C/G	—	uncertain significance
rs1044344992	3:154,832,812	A/G	—	uncertain significance
rs1158932542	3:154,832,824	T/C	—	conflicting classifications of pathogenicity
rs754813027	3:154,832,825	G/A	—	uncertain significance
rs2108251163	3:154,832,826	T/C	—	likely benign
rs2108251175	3:154,832,831	A/T	—	uncertain significance
rs199628395	3:154,832,844	T/C	—	likely benign
rs200698972	3:154,832,850	C/A	—	pathogenic
rs748751413	3:154,832,851	G/A	—	uncertain significance
rs375446154	3:154,832,855	G/T	—	uncertain significance
rs1427426772	3:154,832,860	T/C	—	likely benign
rs184108383	3:154,832,866	C/T	—	uncertain significance
rs201870091	3:154,832,867	G/A	—	uncertain significance
rs199575224	3:154,832,873	T/C	—	uncertain significance
rs200713056	3:154,832,880	C/T	—	likely benign
rs765422392	3:154,832,893	C/T	—	uncertain significance
rs1269241695	3:154,832,897	A/G	—	uncertain significance
rs202011191	3:154,832,898	C/A	—	pathogenic
rs752570847	3:154,832,899	G/A	—	likely benign
rs756048894	3:154,832,904	C/A	—	uncertain significance
rs2472967212	3:154,832,915	T/G	—	likely pathogenic
rs2108251535	3:154,832,922	T/A	—	uncertain significance
rs745499234	3:154,832,932	G/A	—	uncertain significance
rs2108251574	3:154,832,933	T/G	—	uncertain significance
rs1440811096	3:154,832,944	G/A	—	uncertain significance
rs2472967493	3:154,832,959	T/C	—	likely benign
rs199954990	3:154,832,964	G/C	—	likely benign
rs4571206	3:154,833,218	T/C	—	benign
rs187010759	3:154,834,228	G/C	—	likely benign
rs745418124	3:154,834,265	C/T	—	likely benign

Showing 100 of 541 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.