Table 4.

In Silico Prediction of Pathogenic Variants in ARMC5 in Patients With PBMAH

ID	DNA change	Protein change	SNP ID	Domains	In silico modelinga	Allele frequency (%)b
ADT36.01	c.170dupG	p.Ile58Asnfs*45	rs951869246	Armadillo Repeat-Containing-Related	Likely pathogenic	N/A
ADT125.02	c.944G > A	p.R315Q	rs1415974570	Armadillo Repeat-Containing-Related	Likely Pathogenic	0.0004
ADT306.03	c.1084C > T	p.R362W	rs1385397608	arm_5/ARM repeat	Likely pathogenic	0.0032
ADT202.03	c.1090C > T	p.R364*	rs1386368908	Armadillo	Likely Pathogenic	N/A
ADT241.02	c.1223A > G	p.Q408R	rs141923065	Armadillo-like helical	Likely pathogenic	0.313
ADT307.03	c.1223A > G	p.Q408R	rs141923065	Armadillo-like helical	Likely pathogenic	0.313
ADT310.03	c.1223A > G	p.Q408R	rs141923065	Armadillo-like helical	Likely pathogenic	0.313
ADT85.01	c.1736_1739delGCCTc	p.Cys579Serfs*50	rs1387565854	Armadillo-like helical	Likely pathogenic	N/A
ADT85.06	c.1736_1739delGCCTc	p.Cys579Serfs*50	rs1387565854	Armadillo-like helical	Likely pathogenic	N/A
ADT150.02	c.1777C > T	p.R593W	rs587777662	Armadillo-like helical	Likely Pathogenic	0.0004
ADT130.01	c.1928C > T	p.T643M	rs370836071	Armadillo-type fold	Likely pathogenic	0.0037
ADT91.13	c.2477C > A	p.P826H	no ID	BTB/POZ domain	Likely pathogenic	N/A

Analyses were made based on the NM_001105247.1 ARMC5 isoform.

Abbreviations: N/A, not available; SNP, single nucleotide polymorphism.

^a In silico modeling was performed based on Varsome (varsome.com)

^bAllele frequency is based on gnomAD total frequency (gnomAD.com)

^cGenotype c.1736_1739delGCCT was only accounted once in the analysis

Reference: Quang D, Chen Y, Xie X. DANN: a deep learning approach for annotating the pathogenicity of genetic variants. Bioinformatics. 2015;31(5):761-763.