New simple and quick method to analyze serum variant transthyretins: direct MALDI method for the screening of hereditary transthyretin amyloidosis

Table 1 Variant TTRs detected in 42 serum samples obtained from 42 patients with ATTRv amyloidosis by means of the direct MALDI method

Patient number	TTR mutation	Detection of variant TTR peaks	Theoretical mass changes (m/z)	Measured mass changes (m/z)
1	Val30Met	+	+ 32.06	+ 31.95
2	Val30Met	+	+ 32.06	+ 31.62
3	Val30Met	+	+ 32.06	+ 31.58
4	Val30Met	+	+ 32.06	+ 31.30
5	Val30Met	+	+ 32.06	+ 32.08
6	Val30Met	+	+ 32.06	+ 31.21
7	Val30Met	+	+ 32.06	+ 32.51
8	Val30Met	+	+ 32.06	+ 31.97
9	Val30Met	+	+ 32.06	+ 31.20
10	Val30Met	+	+ 32.06	+ 31.53
11	Val30Met	+	+ 32.06	+ 33.22
12	Val30Met	+	+ 32.06	+ 32.07
13	Val30Met	+	+ 32.06	+ 31.77
14	Val30Met	+	+ 32.06	+ 32.45
15	Val30Met	+	+ 32.06	+ 31.33
16	Val30Met	+	+ 32.06	+ 32.46
17	Val30Met	+	+ 32.06	+ 30.75
18	Val30Met	+	+ 32.06	+ 31.29
19	Val30Met	+	+ 32.06	+ 32.73
20	Val30Met	+	+ 32.06	+ 32.57
21	Val30Met	+	+ 32.06	+ 31.22
22	Val30Met	+	+ 32.06	+ 31.54
23	Val30Met	+	+ 32.06	+ 31.35
24	Val30Met	+	+ 32.06	+ 31.82
25	Val30Met	+	+ 32.06	+ 31.72
26	Val30Met	+	+ 32.06	+ 31.30
27	Val28Ser	+	- 12.06	- 13.25
28	Val28Met	+	+ 32.06	+ 32.05
29	Gly47Arg	+	+ 99.13	+ 98.72
30	Thr49Ser	+	- 14.03	- 13.83
31	Thr49Ile	+	+ 12.05	+ 8.79
32	Gly53Glu	+	+ 72.06	+ 71.02
33	Thr60Ala	+	- 30.03	- 29.22
34	Glu61Lys	–	- 0.94	ND
35	Glu61Lys	–	- 0.94	ND
36	Glu61Lys	–	- 0.94	ND
37	Lys80Arg	+	+ 28.01	+ 27.76
38	Gly83Arg	+	+ 99.13	+ 98.77
39	Glu89Gln	–	- 9.90	ND
40	Ala97Gly	+	- 14.02	- 13.55
41	Tyr114Ser	+	- 76.10	- 78.98
42	Tyr114Cys	+	- 60.03	- 59.56

ISSN: 1750-1172