Table 1.
MYO5B gene mutations found in patients with microvillous inclusion disease
| Ancestry | G. | Mutations | E/I | Protein | Effect | Ref. |
|---|---|---|---|---|---|---|
| Italian | M | c.505A>G (Hom) | 5 | p.Lys169Glu | Missense | This work |
| Italian | M | c.1367A>G | 11 | p.Asn456Ser | Missense | 13 |
| c.2700delG | 21 | p.Arg900SerfsX4 | Frameshift | This work | ||
| Algerian Arabic | F | c.866C>A | 8 | p.Ser289X | Nonsense | 11 |
| c.4840C>T | 36 | p.Qln1614X | Nonsense | |||
| Turkish | M | c.502G>A (Hom) | 5 | p.Gly168Arg | Missense | 11 |
| Algerian Arabic | M | c.4667_4668TT>GC (Hom) | 35 | p.Leu1556Arg | Missense | 11 |
| Italian | F | c.1202G>A (Hom) | 10 | p.Arg401His | Missense | 11 |
| French | F | c.1303G>A | 10 | p.Gly435Arg | Missense | 11 |
| Unknown | ||||||
| French | M | c.42G>A | 2 | p.Trp14X | Nonsense | 11 |
| c.428C>A | 4 | p.Ala143Glu | Missense | |||
| Kosovo | M | c.28‐2A>G | Splicing | 11 | ||
| c.1202G>A | 10 | p.Arg401His | Missense | |||
| Portuguese | F | c.1110_1113delTCAG | 10 | p.Ser370ArgfsX27 | Frameshift | 11 |
| c.4755_4576dupT | 36 | p.Asp1586X | Stop codon | |||
| Italian | F | c.2003‐2A>G (Hom) | I 16 | Splicing | 11 | |
| French | M | c.557C>A | 5 | p.Ser186X | Nonsense | 11 |
| c.1A>G | 1 | p.Met1? | ||||
| Turkish | M | c.947‐1G>A (Hom) | I 8 | Splicing | 11 | |
| Navajo (9 cases) | c.1979C>T (Hom) | 16 | p.Pro660Leu | Missense | 16 | |
| Hispanic | M | c.946G>A (Hom) | 8 | p.Gly316Arg | Missense | 13 |
| Hispanic | F | c.2330delG (Hom) | 19 | p.Gly777AspfsX6 | Frameshift | 13 |
| Caucasian | F | c.2245C>T | 19 | p.Arg749X | Nonsense | 13 |
| Unknown | ||||||
| Polish | F | c.28?_1545+?del | 2‐12 | |||
| c.1367A>G | 11 | p.Asn456Ser | Missense | |||
| Moroccan | M | c.4366C>T (Hom) | 33 | p.Gln1456X | Nonsense | 13 |
| Dutch | M | c.4460‐1G>C | I 33 | Splicing | 13 | |
| c.1540T>C | 12 | p.Cys514Arg | Missense | |||
| French | F | c.2671C>T | 21 | p.Q891X | Nonsense | 12 |
| Unknown | ||||||
| Turkish | M | c.656G>A (Hom) | 6 | p.R219H | Missense | 12 |
| Irish | M | c.3046C>T | 23 | p.R1016X | Nonsense | 12 |
| Unknown | ||||||
| Turkish | M | c.5392C>T (Hom) | 39 | p.R1795X | Nonsense | 12 |
| Turkish | M | c.1966C>T (Hom) | 16 | p.R656C | Missense | 12 |
| Turkish | M | c.1125G>A (Hom) | 10 | p.W375X | Nonsense | 12 |
| Turkish | M | c.323T>G (Hom) | 4 | p.V108G | Missense | 12 |
| Turkish | M | c.1323‐2A>G (Hom) | I 10 | Splicing | 12 | |
| Turkish | F | c.1362insAGTTCTGTA (Hom) | 11 | p.Cys454insKFC | Insertion | 12 |
| Taiwan | M | c.445C>T | 4 | p.Gln149X | Nonsense | 14 |
| c.1021C>T | 9 | p.Gln341X | Nonsense | |||
| Caucasian | M | c.1087C>T | 10 | p.Arg363X | Nonsense | 17 |
| Unknown | ||||||
| Turkish | M | c.3163_3165dupCTC | 24 | p.Leu1055dup | Duplication | 17 |
| Unknown | ||||||
| Dutch | F | c.5616‐2A>G | 40 | Splicing | 17 | |
| c.1591C>T | 13 | p.Arg531Trp | Missense | |||
| c.1856C>T | 15 | p.Pro619leu | Missense |
E/I, exon/intron, F, female, G, Gender, (Hom), patient homozygous for the indicated mutation, M, male.