rs1057519443

This is a variant in the MPP4 gene that changes a tryptophan to an arginine.

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ClinVar annotation

Pathogenic

1 submitter

Generalized hypotonia; Global developmental delay (DD); High palate; Intellectual disability; Seizure; Strabismus; Wide nasal bridge

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About MPP4

This gene encodes a member of the membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The protein is localized to the outer limiting membrane in the retina, and is thought to function in photoreceptor polarity and the organization of specialized intercellular junctions. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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