Table 1 Mutations known to cause Gaucher disease

72

N/A

1023

2

C→Del

FS^a

+AluI

I

(5)

84

N/A

1035

2

G→GG

FS^a

(+BsaBI)^b

I

(10,18)

Ivs2

N/A

1067

Ivs2(+ 1)

g→a^c

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)

535^d

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→A^c

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→A^c

Gly→Arg

+Bsu36I

II

(25)

1093^d

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

FS^a

−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→C^c

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→C^c

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→Gln^e

−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)