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. 2001 Jul 6;69(2):301–314. doi: 10.1086/321976

Table 1.

Summary of New TRAPS Mutations

No. of
Mutation(Nucleotide Change) Location Patients Families Ethnicity
H22Y (151 C→T) Exon 2 6 2 Scottish/German, mixed northern European
C30S (176 G→C) Exon 2 3 1 Irish
C33G (184 T→G) Exon 2 2 1 Puerto Rican
P46L (254 C→T) Exon 2 1 1 African American/northern European
S86P (343 T→C) Exon 4 4 1 Scottish/Irish
R92Q362 G→A Exon 4 9 9 Mexican (1), Italian (2), Irish (1), English (1), Portuguese (1), Ashkenazi (1), mixed northern European (2)
Splice (c.193−14 G→A) Intron 3 5 2 Scottish/Arab