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Table 2 Mutations in Spanish AIP probands

From: Identification and Expression of Mutations in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria (AIP)

Proband

Exon

Mutation

Nucleotide change

Amino acid change

References

1

7

G111R

331G→A

111Gly→Arg

20

2

7

g4715insT

Insertion of T after g4715

114C→LQAGKPSX

This report

3

8

R116W

346C→T

116Arg→Trp

12

4

9

R149X

445C→T

149Arg→Term

21

5

10

R167W

499C→T

167Arg→Trp

22,23

6

10

R173W

517C→T

173Arg→Trp

24

7

10

R173W

517C→T

173Arg→Trp

24

8

11

M212V

634A→G

212Met→Val

This report

9

14

g7902ACT→G

a

a

This report

  1. aDeletion of nt ACT at g7902-g7904 and insertion of a G resulted in a frameshift with 10 new amino acid residues (GRSLESR-RLRX) starting at codon 279 and termination after codon 289.