Table 3.

In Silico Modelling of the Effect of ARMC5 Missense Substitution on the Protein Function in Patients With ARMC5 Variants^a

DNA Change	Protein Change	SNP ID	Domains	In Silico Modelling		Interspecies Alignment
				Prediction	Scorea	Mus musculus	Dasypus novemcinctus	Xenopus tropicalis	Petromyzon marinus
c.41T>A	p.F14Y	rs151069962	- x -	Likely benign	0.255	F	-	D	A
c.466C>T	p.L156F	rs114930262	Armadillo	Possible damaging	0.527	L	-	-	-
c.508A>G	p.I170V	rs35923277	Armadillo	Likely benign	0.311	I	I	I	I
c.968G>C	p.G323A	rs35461188	Armadillo	Likely benign	0.001	G	G	A	-
c.1520C>T	p.P507L	rs142376949	- x -	Likely benign	0.001	P	L	L	R
c.1928C>T	p.T643M	rs370836071	- x -	Probably damaging	1.000	T	T	T	N
c.2393G>C	p.G798A	rs115611533	BTB/POZ-like	Likely benign	0.015	G	S	C	A
c.2476C>A	p.P826H	Novel	- x -	Probably damaging	0.895	P	P	S	-
c.2692C>T	p.R898W	Faucz et al (26)	- x -	Probably damaging	1.000	R	R	-	R

Letters in interspecies alignment columns are relative to the amino acid present in the position and the absence of a letter means there is no amino acid at that specific position: F, phenylalanine; D, aspartic acid; A, alanine; L, leucine; I, isoleucine; G, glycine; P, proline; R, arginine; T, threonine; N, asparagine; S, serine; C, cysteine; dash, no amino acid present.

^aPolyPhen-2 was used as standard. Scores go from 0.000 to 1.000. Greater score indicates higher probability to impair the protein function. The main factors taken into account for the calculation of the score are: 1) difference in the thermo-physical properties of the wild-type and mutant protein; and 2) evolutionary preservation of the residue in the corresponding position.