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

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

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
  1. Abbreviation: ND not detected
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172