Table 6. [Notable AKT1 Pathogenic Variants]. - GeneReviews® - NCBI Bookshelf

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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table 6.

Notable AKT1 Pathogenic Variants

Reference Sequences	DNA Nucleotide Change	Predicted Protein Change	Comment [Reference]
NM_005163.2 NP_005154.2	c.49G>A	p.Glu17Lys	Most common pathogenic variant identified in persons w/AKT1-PS
NM_005163.2 NP_005154.2	c.49_50delinsAG	p.Glu17Arg	Observed in 2 persons to date

: AKT1-PS = AKT1-related Proteus syndrome
: 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: Proteus Syndrome

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Biesecker LG, Sapp JC. Proteus Syndrome. 2012 Aug 9 [Updated 2023 May 25]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Table 6. [Notable AKT1 Pathogenic Variants].
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Table 6. [Notable AKT1 Pathogenic Variants]. - GeneReviews®
Table 6. [Notable AKT1 Pathogenic Variants]. - GeneReviews®
acy3[All Fields] AND 1[has_clinical] (24)
dbVar
fasciclin-like arabinogalactan protein 15 [Oryza sativa Japonica Group]
fasciclin-like arabinogalactan protein 15 [Oryza sativa Japonica Group]
gi|1002287095|ref|XP_015647857.1|
Protein
transcription factor HHO2 [Brassica rapa]
transcription factor HHO2 [Brassica rapa]
gi|685273238|ref|XP_009127661.1|
Protein
two-component response regulator-like APRR2 [Brassica rapa]
two-component response regulator-like APRR2 [Brassica rapa]
gi|685291914|ref|XP_009136894.1|
Protein

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