Table 1.
Variations of the Patient | With CLD | |
---|---|---|
Patients with MVID and at least one PTC‐inducing MYO5B mutation | c.5139‐1G > C(het)/c.2731delC (p.Arg911Alafs*6, het) † | No |
c.445C > T (p.Gln149Ter, het)/c.5383C > T (p.Arg1795Ter, het) † | Yes | |
c.3163_3165dup (p.Leu1055dup, het) ‡ /c.2259_2262dup (p.Tyr755Glyfs*9, het) † | No | |
c.3163_3165dup (p.Leu1055dup, het) ‡ /c.2259_2262dup (p.Tyr755Glyfs*9, het) † | No | |
c.4399C > T (p.Gln1467Ter, hom*) | No | |
c.1347delC (p.Phe450Leufs*30, het)2/c.3163_3165dup (p.Leu1055dup, het) ‡ | No | |
c.1347delC (p.Phe450Leufs*30, het)2/c.3163_3165dup (p.Leu1055dup, het) ‡ | No | |
c.445C > T (p.Gln149Ter, het) † /c.1021C > T (p.Gln341Ter, het) † | No | |
c.1390C > T (p.Arg1064Ter, het) † /c.3514C > T (p.Gln1172Ter, het) † | No | |
c.4366C > T (p.Gln1456Ter, hom) † | No | |
c.4399C > T (p.Gln1467Ter, hom) | No | |
Patients with MVID and no PTC‐inducing MYO5B mutations | c.1222A > T (p.Ile408Phe, het)/c.1582C > T (p.Leu528Phe, het) | Yes |
c.1222A > T (p.Ile408Phe, het)/c.1582C > T (p.Leu528Phe, het) | Yes | |
c.310 + 2dupT, het/c.1966C > T (p.Arg656Cys,het) | Yes | |
c.1540T > C (p.Cys514Arg, het)/c.4460‐1G > C, het | Yes | |
c.28‐?_1545+?del, het/c.1367A > G (p.Asn456Ser, het) | Yes | |
c.1979C > T (p.Pro660Leu) | Yes | |
c.1979C > T (p.Pro660Leu) | Yes | |
c.1979C > T (p.Pro660Leu) | Yes | |
c.1979C > T (p.Pro660Leu) | Yes | |
c.656G > T (p.Arg219His, het)/c.4028T > C (p.Leu1343Pro, het) | No | |
c.1979C > T (p.Pro660Leu, hom) | No |
This mutation is expected to result in the expression of a truncated protein that retained its rab8‐binding and rab11a‐binding sites.
This variation is a common single‐nucleotide polymorphism (rs200219597).
Abbreviations: het, heterozygous mutation; hom, homozygous mutation.