Table 1

Synonymous and non-synonymous substitutions found in the parkin and PINK1 gene in affected with parkinsonism.

Family

Affected

Substitutions in Gene

Gender

Age at onset

Parkin

PINK1


Family A

II.1

ND

ND

Male

30

II.2

V380L (He)

ND

Female

28

Family B

II.1

ND

L63L (He)

Female

23

Family C

II.1

ND

ND

Female

20

Family D

II.1

ND

ND

Female

25

II.2

ND

L63L (He)

Female

20

Family E

II.1

ND

E476K (He)

Male

20

Family F

II.2

Exon4 Δ (H)

E476K, N521T (CH)

Male

32

II.4

Exon4 Δ (H)

E476K, N521T (CH)

Male

32

Family G

II.2

ND

P416R (H)

Male

23

II.3

V17V, Q34R (CH)

P416R (H)

Female

25

Family H

II.1

ND

N521T (He)

Male

19

Family I

II.1

ND

D391D, S419P, N521T (all H)

Female

36

II.2

ND

D391D, S419P, N521T (all H)

Female

35

Family J

II.1

ND

A340S, N521T (CH)

Male

36

Family K

II.1

ND

L63L

Female

25

II.2

ND

L63L

Male

27


Putative pathogenic mutations are in bold. CH – compound heterozygous; H – Homozygous; He – Heterozygous; Δ – deletion; ND – none detected.

Myhre et al. BMC Neurology 2008 8:47   doi:10.1186/1471-2377-8-47

Open Data