Gene Symbol: MME
OMIM: 120520Chromosome location: 3q25.2
Related informations:  
NCBI Gene  
Genome Browser  
Ensembl  
UniProt  
GeneCards  
Kyoto Encyclopedia  
BioGPS  
HGNC  
HPRD  
Phenotype: |    Membranous glomerulonephritis, antenatal |
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Dna Change: |    c.466delC |
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Protein Change: |    p.Pro156Leufs*14 |
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Mutation Type: |    Deletion |
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Mutation Effect: |    Frameshift |
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Location: |    exon 6 |
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Transcript: |    NM_000902.3 |
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Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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Italy | NA | NA | 2 patients/1 family | NA | Vivarelli M et al., 2015Vivarelli M, Emma F, Pellé T, Gerken C, Pedicelli S, Diomedi-Camassei F, Klaus G, Waldegger S, Ronco P, Debiec H, . Genetic homogeneity but IgG subclass-dependent clinical variability of alloimmune membranous nephropathy with anti-neutral endopeptidase antibodies.. Kidney Int.. 2015; 0(0): |
References
Vivarelli M, Emma F, Pellé T, Gerken C, Pedicelli S, Diomedi-Camassei F, Klaus G, Waldegger S, Ronco P, Debiec H, Genetic homogeneity but IgG subclass-dependent clinical variability of alloimmune membranous nephropathy with anti-neutral endopeptidase antibodies.Kidney Int.. 2015; 0(0):