Subjects | Exon | c.DNA position | Amino acid change | Frequency (%) | Ethnic population | References |
---|---|---|---|---|---|---|
3/13 (P1,P2,P3) | Ex13 | c.1510C > T g. 72,637,803 C > T | p.R504C (Arg504Cys) CGC˃TGC | 23 | German, French, Algerian, & Egyptian | Akli et al. (1991) Akli et al. (1993b) Paw et al. (1991) Tanaka et al. (1994) This report |
1/13 (P4) | Ex13 | c.1511G > A g. 72,637,802 G > A | p.R504H (Arg504His) CGC˃CAC | 7.7 | Assyria, Lebanes, Americn, & Egyptian | Paw et al. (1990a) This report |
1/13 (P5) | Ex13 | c.1495C > T g. 72,637,818 C > T | P.R499C (Arg499Cys) CGT˃TGT | 7.7 | Slavic, Irish, English, Polish, & Egyptian | Akli et al. (1993b); Mules et al. (1992b); Paw et al. (1990); This report |
1/13 (P6) | Ex8 | c.952C > G g. 72,641,454 C > G | p.H318D (Hist318Asp) CAT˃GAT | 7.7 | Egyptian | Novel. This report {A different amino acid change (H318R) reported at the same codon} |
1/13 (P7) | Ex8 | c.920A > C g. 72,641,486 A > C | p.E307A (glu 307ala) GAA˃GCA | 7.7% | Egyptian | Novel. This report. A different amino acid change (E307K) reported at the same codon |
1/13 (P9) | Ex5 | c.484del G g. 72,645,495 delG | p. E162Rfs*37 | 7.7 | Egyptian | Novel. This report |
11/13 TSD patients, 5/5 patients with normal Hex-A enzyme & 5/5 controls | Ex11 | c.1306A > G g.72638892A > G | p.I436V (Ile 436 Val) ATA˃GTA | 91 | Egyptian, Black American, & mixed ethnic | Mules et al. (1992b) This report |
11/13 TSD patients, 5/5 patients with normal HEXA enzyme & 5/5 controls | Ex13 | c.1551A > G g.72637795 G > A {c.1518A > G} | p. E417 = (Glu417 =) GAA˃GAG {P. E506 =} | 91 | Egyptian, German, & multiethnic | Paw et al. (1991); Akli et al. (1993b); Tanaka et al. (1994); This report |
1/13 (P8) | Ex1 | c.8G > C g.72668306G > C | p.S3T (Ser3Thr) AGC˃ACC | 7.7 | Egyptian, Ashenazi J. &mixed ethnic | Cecchi et al. (2019); This report |
1/13 (P11) | Ex 1 | c.6A > G g. 72,668,308 | P.T2T ACA > ACG | Egyptian, No data for the ClinVar submission | This report; a ClinVar submission |