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. 2025 Aug 29;26(17):8399. doi: 10.3390/ijms26178399
1KGP The 1000 Genomes Project
AMPH1 Amphiphysin1
ARHGEF2 Rho guanine nucleotide exchange factor 2
CACNA1E/Cav2.3 Voltage-dependent R-type calcium channel subunit alpha-1E (Cav2.3)
CDD CDKL5 Deficiency Disorder
CDKL5 Cyclin-Dependent Kinase-Like 5
CEP131 Centrosomal protein of 131 kDa
CVI Cortical/cerebral visual impairment
DLG5 Disks large homolog 5
DNMT1 DNA methyltransferase 1
EB2/MAPRE2 Microtubule-associated protein RP/EB family member 2
ELOA Elongin A
EP400 EE1A-binding protein p400
GATAD2A GATA zinc finger domain containing 2A
GRCh38 The Genome Reference Consortium Human Build 38
GTF2I General transcription factor II-I
HDAC4 Histone deacetylase 4
IGSR The International Genome Sample Resource
IQGAP1 IQ Motif Containing GTPase Activating Protein 1
MAP1S Microtubule-associated protein 1S
MeCP2 Methyl-CpG binding protein 2
NGL-1/KIAA1580/LRRC4C Netrin-G ligand-1
OMIM Online Mendelian Inheritance in Man
PPP1R35 Protein phosphatase 1 regulatory subunit 35
PSD95/DLG4 Postsynaptic density protein 95
SHTN1/SHOT1 Shootin1
SMAD3 Mothers against decapentaplegic homolog 3
SOX9 Transcription factor SOX-9
SQSTM1/p62 Sequestosome-1(p62)
STK9 Serine threonine kinase 9
TTDN1 TTD non-photosensitive 1 protein
VDW Van der Waals
XCI X-chromosome inactivation
ZNF219 Zinc finger protein 219
ΔΔGbinding Binding free energy change
ΔΔGfolding Folding free energy changes
ΔΔGBmax Maximum binding free energy change: For each variant, the maximum complex-averaged |ΔΔGbinding| across selected CDKL5-target protein–protein interactions.
ΔΔGFmax Maximum folding free energy change: For each variant, the highest ΔΔGfolding value across several computational methods.