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. 2024 Oct 15;25(20):11066. doi: 10.3390/ijms252011066

Table 1.

Genes with high rate of nonsynonymous mutations in Russian Snow White.

Protein Mutations Gene
actin filament-associated protein 1 3 AFAP1
homeobox protein BarH-like 1 2 BARX1
protein CDV3 homolog 2 CDV3
neural cell adhesion molecule L1-like protein 4 CHL1
probable ATP-dependent RNA helicase DDX31 4 DDX31
DNA excision repair protein ERCC-6-like 2 2 ERCC6L2
protein FAM168A 2 FAM168A
COP9 signalosome complex subunit 1 2 GPS1
grainyhead-like protein 2 homolog 2 GRHL2
hemicentin-1 3 HMCN1
Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 3 INPP5D
T-cell receptor alpha variable 20-like 5 LOC107049836
uncharacterized protein LOC107051951 3 LOC107051951
uncharacterized protein LOC121107430 4 LOC121107430
mitochondrial antiviral signaling protein 3 MAVS
mediator of RNA polymerase II transcription subunit 1 3 MED1
mitochondrial genome maintenance exonuclease 1 2 MGME1
serine/threonine-protein kinase NEK10 4 NEK10
neurogenic locus notch homolog protein 2 precursor 3 NOTCH2
P2X purinoceptor 7 3 P2RX7
3-phosphoinositide-dependent protein kinase 1 2 PDPK1
PEX5-related protein 2 PEX5L
E3 SUMO-protein ligase PIAS2 2 PIAS2
plakophilin-4 6 PKP4
PLAC8 like 2 2 PLACL2
DNA polymerase lambda 3 POLL
mothers against decapentaplegic homolog 9 2 SMAD9
synaptic vesicle glycoprotein 2C 2 SV2C
tyrosine 3-monooxygenase 3 THL