QuickTime™ and a TIFF (Uncompressed) decompressor are needed to see this picture.

Variant: Ser364

Wild-type: Gly364

Discovery of CHGA Gly364Ser

Gly364Ser = G9559A

Sensecodon

Antisensecodon

Gly364 GGC GCC

Ser364 AGC GCT S1.

0

5

10

15

20

25

6300 6400 6500 6600 6700 6800 6900 7000 7100 7200

G

GA A

GA

Prim

er

CHGA(G382S)_710293

Inte

nsity

Mass

0

5

10

15

20

25

30

6300 6400 6500 6600 6700 6800 6900 7000 7100 7200

G

GA A

GA

Prim

er

CHGA(G382S)_710293

Inte

nsity

Mass

-1.0

-0.5

0.0

0.5

1.0

1.5

2.0

2.5

3.0

3.5

4.0

6300 6400 6500 6600 6700 6800 6900 7000 7100 7200

G

GA A

GA

Prim

er

CHGA(G382S)_710293

Inte

nsity

Mass

Subject P3692Ser/Ser (A/A) homozygote

Subject T396Gly/Ser (G/A) heterozygote

Subject T397Gly/Ser (G/A) Heterozygote

Subject P3691Gly/Gly (G/G)homozygote

CHGA single nucleotide polymorphism Gly364Ser (G9559A). Analysis by a two-stage MALDI-TOF assay.

A allele

Mass by MALDI-TOF

G allele

Ass

a y s

ign

al

S2a.

0

5

10

15

20

25

30

35

6300 6400 6500 6600 6700 6800 6900 7000 7100 7200

G

GA A

GA

Prim

er

CHGA(G382S)_710293

Inte

nsity

Mass

CHGA single nucleotide polymorphism Gly364Ser (G9559A). Analysis by a two-stage MALDI-TOF assay.

P3962, A/A(father)

T397, G/A(twin daughter)

T396, G/A(twin daughter)

MALDI-TOF box 60124

Gly364 (G9559)

364S

er (

9559

A)

S2b.

P3961, G/G(mother)

S3a.

Coa

lesc

ent U

nits

CHGA Gly364Ser haplotype coalescent:T9179C G9559A (Gly364Ser) C9610T

8/2/05 RMS

Coa

lesc

ent

units

Kilo

-yea

rs b

efor

e th

e pr

esen

t

n: 249 34 11 52

Anc

estr

al h

aplo

type

S3b.