TABLE I.

Novel Mutations in MYO15A Identified in This Study

Family code	Ethnicity	Type of mutation	Nucleotide change (NM_016239.3)	Amino acid change (NP_057323)	Location in protein	Polyphen prediction	SIFT prediction	Conseq prediction
L-3054	Fars (Central Iran)	Missense	c.5305A>G; n.5643A>G	p.(Thr1769Ala)	Motor domain	Score = 0.999 probably damaging	Substitution is not tolerated	A predicted functional residue (highly conserved and exposed) Score in Conservation scale (1–9) = 9
L-8800118	Azeri (Northwestern Iran)	Nonsense	c.5925G>A; n.6263G>A	p.(Trp1975X)	IQ Motif	N/A	N/A	N/A
L-486	Sistani (Southeastern Iran)	Deletion (1 nt)	c.5419-21delT; n.5759-61delT	p.(Phe1807Leu fsX6)	Motor domain	N/A	N/A	N/A
		Missense	c. 1387A>G; n.1725A>G	p.(Met463Val)	N-terminal extension	Score = 0.099 benign	Substitution is not tolerated	Exposed amino acid Score in Conservation scale (1–9) = 5
L-1828	Fars (Central Iran)	Missense	c.8467G>A; n.8805G>A	p.(Asp2823Asn)	FERM domain	Score= 0.999 Probably damaging	Substitution is not tolerated	Exposed amino acid Score in Conservation scale (1–9) = 5
L-8800094	Azeri (Northwestern Iran)	Missense	c.5810G>A; n.6148G>A	p.(Arg1937His)	Motor domain	Score = 1.000 probably damaging	Substitution is not tolerated	Exposed amino acid Score in Conservation scale (1–9) = 6
L-1406	Kord (Western Iran)	Deletion (3 nt)	c.4904-4907delGAG	p.(Glu1637del)	Motor domain	N/A	N/A	Buried amino acid in the protein structure Score in Conservation scale (1–9) = 1

Note that the locations in the protein are predicted according to NP_057323.3.