Table 1.

Summary of MYO5B mutations associated with MVID as reported in this study.

Subject	Ancestry	Parental Consang.	Sex/onset	MYO5B mutation	Homo/heterozyguos	MYOVb domain	Predicted effect on RNA and/or protein
1	Hispanic	n.r.	Male/early	c.946 G>A (p.Gly316Arg, exon8)	Homozygous	head	Nonconservative substitution, evolutionary conserved
2, 3	Hispanic	yes	Female/early	c.2330_del G (p.Gly777AsnfsX6, exon 19)	Homozygous	Neck (IQ1)	Nonconservative substitution, evolutionary conserved, PMT, loss of dimerization and cargo-binding domains
4, 5	Navajo Indian	yes	Male/early; Female/early	c.1979C>T (p.Pro660Leu, exon 16)	Homozygous	Head	Nonconservative substitution, evolutionary conserved
6	Caucasian	No	Female/Early	c.2246 C>T (p.Arg749X, exon 19)	Compound Heterozygous	Neck (IQ1)	Nonconservative substitution, evolutionary conserved, PMT, loss of dimerization and cargo-binding domains
7	Polish	No	Female/early	c.28-?_1545+?del (deletion exon 2–12)	Compound Heterozygous	Head	Shortened protein, in frame deletion residues 10-515
7	Polish	No	Female/early	c.1367A>G (p.Asn456Ser; exon 11)	Compound Heterozygous	Head	Nonconservative substitution, evolutionary conserved
8	Moroccan	Yes	Male/early	c.4366C>T (p.Gln1456X, exon 33)	homozygous	Tail	NMD; PMT, loss of distal Rab11a BD
9	Dutch	No	Male/late	c.4460-1G>C (splicing, intron 33)	Compound Heterozygous	Tail	Partial intron 33 insertion, NMD; PMT, loss of distal Rab11a BD
9	Dutch	No	Male/late	c.1540T>C (p.Cys514Arg, exon 12)	Compound Heterozygous	Head	Nonconservative substitution, evolutionary conserved

NMD, nonsense-mediated RNA decay; PMT, prematurely terminated protein; Rab11a BD (binding domain); n.r., not reported.