Table 9.

MPPH Syndrome: Notable Pathogenic Variants by Gene

GeneReference SequencesDNA Nucleotide ChangePredicted
Protein Change		Comment [Reference]
AKT3 NM_005465​.7
NP_005456​.1 		c.1393C>Tp.Arg465TrpMost common MPPH-assoc pathogenic variant [Alcantara et al 2017]
PIK3R2 NM_005027​.4
NP_005018​.2 		c.1117G>Ap.Gly373ArgMost common PIK3R2 pathogenic variant [Rivière et al 2012, Nakamura et al 2014, Mirzaa et al 2015, Terrone et al 2016].

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

From: MPPH Syndrome

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