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Table 1 Mutations known to cause Gaucher disease

From: Glucocerebrosidase Mutations in Gaucher Disease

cDNA Number from Upstream ATG Amino Acid Number from Cleavage Site Genomic Number (7) Exon Base Substitution Amino Acid Substitution Rapid Detection Method Disease Type Reference
72 N/A 1023 2 C→Del FSa +AluI I (5)
84 N/A 1035 2 G→GG FSa (+BsaBI)b I (10,18)
Ivs2 N/A 1067 Ivs2(+ 1) g→ac Splice −HphI I (3)
476 120 3060 5 G→A Arg→Gln +BstNI I (19)
481 122 3065 5 C→T Pro→Ser −KpnI I (3,5)
535d 140 3119 5 G→C Asp→His +BspHI I (20)
586 157 3170 5 A→C Lys→Gln + ScrFI II (20,21)
751 212 3545 6 T→C Tyr→His +DraIII I (3,5)
754 213 3548 6 T→Ac Phe→Ile (+Nsi)b I,III (22)
764 216 4113 7 T→A Phe→Tyr +KpnI I (23)
983 289 4332 7 C→T Pro→Leu (−BglI)b I (24)
1043 309 5259 8 C→T Ala→Val −BanI I (21)
1053 312 5269 8 G→T Trp→Cys −KpnI I (21)
1085 323 5301 8 C→T Thr→Ile +FokI I (24)
1090 325 5306 8 G→Ac Gly→Arg +Bsu36I II (25)
1093d 326 5309 8 G→A Glu→Lys −BsmaI I (20)
1141 342 5357 8 T→G Cys→Gly −StuI II (25)
1192 359 5408 8 C→T Arg→Stop −Sau3AI I,II (6)
1193 359 5409 8 G→A Arg→Gln −TaqI I (26)
1208 364 5424 8 G→C Ser→Thr (+AlwNI)b I (21)
1226 370 5841 9 A→G Asn→Ser (+XhoI)b I (27)
1246 377 5861 9 G→A Gly→Ser +PvuII I (28)
1256 380 5871 9 A→C Asp→Ala + ScrFI I (29)
1263 N/A 5878 9 55Del FSa −SalI I (3,5)
1297 394 5912 9 G−T Val−Leu (−BanI)b I,III (30)
1312 399 5927 9 G→A Asp→Asn −TaqI II (6)
1342 409 5957 9 G→Cc Asp→His −StyI I,III (25,30)
1343 409 5958 9 A→T Asp→Val −AflIIII III (30)
1361 415 5976 9 C→G Pro→Arg +HhaI II (31)
1390 425 6375 10 A→G Lys→Glu (+ SacI)b III (26)
1448 444 6433 10 T→Cc Leu→Pro +NclI I,II,III (16)
1504 463 6489 10 C→T Arg→Cys +BsrI I,III (32)
1505 463 6490 10 G→A Arg→Glne −MspI III (33)
1549 478 6628 11 G→A Gly→Ser +AluI I (5)
1603 496 6682 11 C→T Arg→Cys −BsaHI I (26)
1604 496 6683 11 G→A Arg→His +HphI I (3,5)
  1. aFrame shift with early termination.
  2. bRestriction site created artifically by mismatching a PCR primer.
  3. cMutation creates the sequence found in the pseudogene.
  4. dBoth mutations found on the same chromosome in one report (20), but we have encountered the 1093A mutation alone.
  5. eSplicing defect with early termination.