Name

Mutation

Position
Nucleotide change

Amino Acid change/Predicted Consequence

Number
of Families

Countries of Origin

Mutated element

Reference

CCC

CpG

IVS1-1G®A

Splice site

c.183-1G®A

Aberrant splicing

10

Poland, Argelia, Slovakia (6), Czech. (2)

N

N

3, 7, 11,
13, 14

c.198GG®ATT

Frameshift

c.198GG®ATT

Frameshift after Phe10

1

Italy

Y

N

2

L25P

Missense

c241T®C

Leu25Pro

2

Germany

Y

N

5,11

E42A

Missense

c.292A®C

Glu42Ala

1

UK

N

N

2

S47L

Missense

c.307C®T

Ser47Leu

1

Slovakia

N

Y

13

R53W

Missense

c.324C®T

Arg53Trp

1

U.S.A.

N

Y

7

R58fs

Frameshift

c.342delA

Frameshift after Arg58

3

Finland, India, Slovakia

N

N

6, 7, 14

W60G

Missense

c.345T®G

Trp60Gly

1

U.S.A.

N

N

3

Y62C

Missense

c.352A®G

Tyr62Cys

1

France

N

N

3

W97G

Missense

c.456T®G

Trp97Gly

2

France, Switzerland

N

N

2, 7

IVS5+1G®T

Splice site

c.509+1G®T

Aberrant splicing

1

Holland

N

N

2

IVS5+1G®A

Splice site

c.509+1G®A

Aberrant splicing

4

Slovakia (3), Czech.

N

N

11, 13

A122D

Missense

c.532C®A

Ala122Asp

1

The Netherlands

N

N

3

A122V

Missense

c.532C®T

Ala122Val

1

India

N

N

7

G152fs

Frameshift

c.621insG

Frameshift after Gly152

14

Italy, France, and Slovakia (12)

Y

N

4, 7, 8,
11, 13, 14

D153G

Missense

c.625A®G

Asp153Gly

2

France

Y

N

2, 7

IVS7+5G®A

Splice site

c.636+5G®A

Aberrant splicing

1

Italy

N

N

8

G161R

Missense

c.648G®A

Gly161Arg

23

Slovakia (18), Czech. (3), Germany, U.S.A.

Y

N

4, 7, 11,
13, 14

E168K

Missense

c.669G®A

Glu168Lys

1

Japan

N

Y

9

V181F

Missense

c.708G®T

Val181Phe

1

France

N

Y

7

S189I

Missense

c.733G®T

Ser189Ile

1

Algeria

N

N

2

T196fs

Frameshift

c.754delC

Frameshift after Thr198

1

Portugal

N

N

7

I216T

Missense

c.814T®C

Ile216Thr

1

Spain

N

N

2

IVS9-56G®A

Intron change

c.817-56G®A

Aberrant Splicing

2

Italy

Y

N

2

IVS9-17G®A

Intron change

c.817-17G®A

Aberrant Splicing

1

Italy

Y

N

2

R225H

Missense

c.841G®A

Arg225His

1

Spain

N

Y

2

F227S

Missense

c.847T®C

Phe227Ser

1

Spain

N

N

2

P230S

Missense

c.855C®T

Pro230Ser

6

Spain (3) and Turkey, Slovakia (2)

Y

N

1, 2, 11,
12, 13

P230T

Missense

c.855C®A

Pro230Thr

1

Spain

Y

N

3

K248R

Missense

c.909A®G

Lys248Arg

1

Italy

N

N

8

G270R

Missense

c.975G®A

Gly270Arg

9

Italy, Slovakia (8)

Y

Y

8, 11, 13, 14

D291E

Missense

c.1040C®A

Asp291Glu

2

Spain, Portugal

N

N

3, 7

H292R

Missense

c.1042A®G

His292Arg

1

France

N

N

7

V300G

Missense

c.1066T®G

Val300Gly

6

France, Spain , Germany & Slovakia (3)

N

N

1, 2,
11, 13

R321X

Nonsense

c.1128C®T

Arg321Stop

1

Switzerland

N

Y

7

W322R

Missense

c.1131T®C

Trp322Arg

1

Spain

Y

N

7

R330S

Missense

c.1157G®T

Arg330Ser

1

Finland

N

N

6

G360R

Missense

c.1245G®C

Gly360Arg

2

Italy

Y

N

8

M368V

Missense

c.1269A®G

Met368Val

14

Germany (5), France(2), USA, The Netherlands, Finland (2), Portugal, and Spain (2)

N

N

2, 3,
5, 6,
7,
10, 11

P370fs

Frameshift

c.1278insC

Frameshift after Pro370

11

Slovakia

Y

N

11, 13, 14

H371R

Missense

c.1279A®G

His371Arg

1

Finland

Y

N

6

IVS13+1G®T

Splice site

c.1355+1G®T

Aberrant Splicing

1

Poland

N

N

7

A407A

Neutral

c.1388G®A

New donor splice site

1

Argelia

N

N

7