LMLN leishmanolysin like peptidase

Canonical transcript: NM_033029

73 unique variant annotations were identified in 42 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
3-197687112-C-CC c.20dup p.Lys8Glufs*64 Frameshift 1/16 - 1
3-197687133-G-C c.41G>C p.Gly14Ala Missense 1/16 - 1
3-197687135-GGA-TTT c.43_45delinsTTT p.Gly15Phe Missense 1/16 - 1
3-197687138-G-A c.46G>A p.Gly16Arg Missense 1/16 - 1
3-197687138-GGA-TTT c.46_48delinsTTT p.Gly16Phe Missense 1/16 - 1
3-197687171-AGC-GAG c.79_81delinsGAG p.Ser27Glu Missense 1/16 - 1
3-197687240-A-C c.148A>C p.Ser50Arg Missense 1/16 - 1
3-197687242-C-A c.150C>A p.Ser50Arg Missense 1/16 - 1
3-197687242-C-G c.150C>G p.Ser50Arg Missense 1/16 - 1
3-197687286-CGGC-C c.194_196del p.Arg65del InFrameDeletion 1/16 - 1
3-197687297-C-G c.205C>G p.Pro69Ala Missense 1/16 - 2
3-197689210-T-A c.219+1899T>A - IntronicSNV - 1/15 1
3-197689210-T-C c.219+1899T>C - IntronicSNV - 1/15 1
3-197701287-AA-GC c.259_260delinsGC p.Lys87Ala Missense 2/16 - 1
3-197701299-G-A c.271G>A p.Asp91Asn Missense 2/16 - 1
3-197701300-A-G c.272A>G p.Asp91Gly Missense 2/16 - 1
3-197701917-CTC-ATG c.322_324delinsATG p.Leu108Met Missense 3/16 - 1
3-197702948-G-C c.397G>C p.Val133Leu Missense 4/16 - 1
3-197702951-CGT-AAG c.400_402delinsAAG p.Arg134Lys Missense 4/16 - 1
3-197702954-CGA-TGG c.403_405delinsTGG p.Arg135Trp Missense 4/16 - 1
3-197702955-G-A c.404G>A p.Arg135Gln Missense 4/16 - 1
3-197703473-T-C c.436T>C p.Cys146Arg Missense 5/16 - 1
3-197703551-T-A c.514T>A p.Cys172Ser Missense 5/16 - 1
3-197703552-G-C c.515G>C p.Cys172Ser Missense 5/16 - 1
3-197706922-G-A c.550-275G>A - IntronicSNV - 5/15 1
3-197707219-G-C c.572G>C p.Gly191Ala Missense 6/16 - 4
3-197707234-G-C c.587G>C p.Gly196Ala Missense 6/16 - 1
3-197707258-A-C c.611A>C p.Glu204Ala Missense 6/16 - 1
3-197707290-G-A c.643G>A p.Val215Ile Missense 6/16 - 1
3-197707342-C-G c.695C>G p.Ala232Gly Missense 6/16 - 1
3-197707343-A-C c.696A>C p.Ala232Ala Synonymous 6/16 - 1
3-197707343-A-G c.696A>G p.Ala232Ala Synonymous 6/16 - 1
3-197707343-A-T c.696A>T p.Ala232Ala Synonymous 6/16 - 1
3-197707356-CA-TG c.709_710inv p.Gln237Trp Missense 6/16 - 1
3-197707362-AGCAAACATGGACAGGTAATCTTTCCTCCGGGACTTAGTTTCCAAGATCTAATGTGGGAA-A c.715_728+45del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 6/16 6/15 1
3-197707363-C-G c.716C>G p.Ala239Gly Missense 6/16 - 1
3-197709783-A-G c.729-1031A>G - IntronicSNV - 6/15 1
3-197710822-GCAGGATATGCTAACCTGTGTCCAAATATGATCTCTACCCAGCCTCAGGAGTTTGTTGGG-G c.737_795del p.Ala246Aspfs*8 Frameshift 7/16 - 1
3-197710835-C-T c.750C>T p.Asn250Asn Synonymous 7/16 - 1
3-197710904-G-T c.819G>T p.Glu273Asp Missense 7/16 - 1
3-197712667-G-C c.835G>C p.Gly279Arg Missense 8/16 - 1
3-197712727-A-G c.895A>G p.Arg299Gly Missense 8/16 - 1
3-197717398-G-C c.930-32G>C - IntronicSNV - 8/15 1
3-197717485-G-A c.985G>A p.Asp329Asn Missense 9/16 - 1
3-197717542-G-A c.1042G>A p.Val348Ile Missense 9/16 - 1
3-197717542-GTT-TAA c.1042_1044delinsTAA p.Val348* Nonsense 9/16 - 2
3-197723052-G-A c.1054G>A p.Ala352Thr Missense 10/16 - 1
3-197723091-G-A c.1093G>A p.Glu365Lys Missense 10/16 - 1
3-197726191-TCTGGCATTAATGGAGGACACTGGGTAAGACAGCTGTGACAAGAGGATATGAATTGCTTA-T c.1210_1232+36del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 11/16 11/15 1
3-197726192-CTGGCATTAATGGAGGACACTGGGTAAGACAGCTGTGACAAGAGGATATGAATTGCTTAT-C c.1211_1232+37del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 11/16 11/15 1
3-197726197-T-C c.1216T>C p.Leu406Leu Synonymous 11/16 - 1
3-197726205-AGGACACTGGGTAAGACAGCTGTGACAAGAGGATATGAATTGCTTATGAAAATGAAATTA-A c.1224_1232+50del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 11/16 11/15 1
3-197726295-C-T c.1232+82C>T - IntronicSNV - 11/15 1
3-197744198-A-G c.1233-1926A>G - IntronicSNV - 11/15 1
3-197744198-A-T c.1233-1926A>T - IntronicSNV - 11/15 1
3-197746153-ACGCTCAGAAGTAACCCACTGCAGCTAACTTGCAGACAGGACCAGAGAGCAGTTGCCGTG-A c.1262_1320del p.Thr421Metfs*2 InFrameDeletion 12/16 - 1
3-197746231-C-G c.1340C>G p.Pro447Arg Missense 12/16 - 1
3-197748332-A-T c.1381A>T p.Ser461Cys Missense 13/16 - 1
3-197748344-G-A c.1393G>A p.Ala465Thr Missense 13/16 - 1
3-197748389-CTACTGCCCTTTCAGTCAGGAATTCAGTTGGCATTTAAGTGGTGAATATCAGCGCAGCTC-C c.1438_1496del p.Tyr480Argfs*3 InFrameDeletion 13/16 - 1
3-197748392-TG-AC c.1441_1442delinsAC p.Cys481Thr Missense 13/16 - 4
3-197748424-A-C c.1473A>C p.Leu491Phe Missense 13/16 - 1
3-197748424-A-T c.1473A>T p.Leu491Phe Missense 13/16 - 1
3-197751600-G-C c.1597G>C p.Val533Leu Missense 14/16 - 1
3-197751621-A-G c.1618A>G p.Lys540Glu Missense 14/16 - 3
3-197762733-TTTGGGTCC-T c.1686_1693del p.Trp563Argfs*7 Frameshift 15/16 - 1
3-197762734-TT-T c.1687del p.Trp563Glyfs*22 Frameshift 15/16 - 1
3-197762839-TG-AC c.1792_1793delinsAC p.Cys598Thr Missense 15/16 - 1
3-197765466-G-A c.1896G>A p.Val632Val Synonymous 16/16 - 1
3-197765466-G-C c.1896G>C p.Val632Val Synonymous 16/16 - 1
3-197765466-G-T c.1896G>T p.Val632Val Synonymous 16/16 - 1
3-197765476-T-C c.1906T>C p.Trp636Arg Missense 16/16 - 1
3-197765509-G-A c.1939G>A p.Ala647Thr Missense 16/16 - 1