Variant: rs104894805 

    present in Gene: EMD
    present in Chromosome: X
    Position on Chromosome: 154380980
    Alleles of this Variant: C/A;T

rs104894805 in EMD gene and X-Linked Emery-Dreifuss Muscular Dystrophy PMID 10323252 1999 Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.

PMID 11587540 2001 How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy?

PMID 15328537 2004 Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane.

PMID 15009215 2004 Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy.