Type of mutation | Mutations | Variants | Ethnicity | Patients # | Clinical diagnosis | Literature |
---|---|---|---|---|---|---|
Missense | c.211G > A | p. Val71Met | Israeli | 9 | AM | Mory et al. [15] |
c.265C > T | p. Arg89Cys | Pakistani | 2 | AM | Fares-Taie et al. [6] | |
c.287G > A | p.Arg96His | Chinese | 1 | A | Liu et al. [21] | |
c.434C > T | p. Ala145Val | Saudi Arabian | 2 | M | Aldahmesh et al. [14] | |
c.521G > A | p.Cys174Tyr | Lebanese | 3 | AM | Roos et al. [16] | |
c.709G > A | p.Gly237Arg | Chinese & Iranian | 3 | A | ||
c.845G > C | p.Gly282Ala | Arabic | 2 | M | Alabdullatif et al. [20] | |
c.964G > A | p.Val322Met | Indian | 1 | A | Ullah et al. [3] | |
c.1064C > G | p.Pro355Arg | Egyptian | 1 | A | Abouzeid et al. [17]. | |
c.1105A > T | p. Ile369Pro | Saudi Arabian | 3 | M | Aldahmesh et al. [14] | |
c.1144G > A | p.Gly382Arg | Egyptian | 4 | A | Abouzeid et al. [17] | |
c.1231G > A | p.Glu411Lys | Sri Lankan | 1 | M | Abouzeid et al. [17] | |
c.1398C > A | p.Asn466Lys | Turkish | 2 | AM | Semerci et al. [18] | |
c.1477G > C | p. Ala493Pro | Turkish | 1 | AM | Fares-Taie et al. [6] | |
c. 1240G > C | p.Gly414Arg | Pakistani | 4 | A | Present study | |
Nonsense | c.568A > T | p.Lys190 | Egyptian | 2 | AM | Yahyavi et al. [5] |
c.898G > T | p.Glu300 | Spanish | 1 | M | Abouzeid et al. [17] | |
c.1165A > T | p.Lys389 | Hispanic | 1 | AM | Yahyavi et al. [5] | |
Splicing | c.204 + 1G > A Alteration of the WT donor site | affecting splicing | Egyptian | 2 | AM | Abouzeid et al. [17] |
c.475 + 1G > T Skipping of exon 5 | p. Asp159-Pro179 del | Moroccan | 1 | AM | Fares-Taie et al. [6] | |
c.666G > A Skipping of exon 6 | p.Trp180_Glu222del | Turkish | 7 | AM | Semerci et al. [18] Plaisancié et al. [13] | |
c.1391 + 1G > T Alteration of the WT donor site | affecting splicing | Egyptian | 1 | A | Abouzeid et al. [17] | |
Frameshift | c.1310_1311delAT | p.Tyr437Trpfs*44 | Pakistani | 4 | A | Ullah et al. [3] |
c.172dup | p. Glu58Glyfs*5 | Pakistani | 3 | A | Present study |