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Discovery of CHGA Gly364Ser. Wild-type: Gly 364 . Variant: Ser 364 . S1. CHGA single nucleotide polymorphism Gly364Ser (G9559A). Analysis by a two-stage MALDI-TOF assay. Subject P3692 Ser/Ser (A/A) homozygote Subject T396 Gly/Ser (G/A) heterozygote Subject T397 - PowerPoint PPT Presentation
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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.