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Table 1 Scores of the BLOSUM 62, PAM 250 and Grantham matrices. BLOSUM 62 scores range between -4 and 11, PAM 250 scores between -8 and 17, and Grantham scores between 5 and 215. For the BLOSUM 62 and PAM 250 matrices, a more negative score corresponds to a less conservative amino acid change. For the Grantham matrix, a higher number reflects a less conservative change.

From: Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex

Amino Acid Substitution

Family

BLOSUM 62

PAM 250

Grantham

TSC2 R1772C

1

-3

-4

180

TSC2 T993M

2

-1

-1

81

TSC2 L1511H

2

-3

-2

99

TSC2 A196T

3

0

1

58

TSC2 Y598H

3

2

0

83

TSC2 S132C

4

-1

0

112

TSC2 F143L

4

0

2

22

TSC2 C244R

4

-3

-4

180