Skip to main content
. 2020 Oct 14;72(4):1461–1468. doi: 10.1002/hep.31430

Table 1.

Individual Nontransplanted Patients With MVID and Reported MYO5B Variations and Presence or Absence of CLD

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.