Skip to main content

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.
Back to article page

Molecular Medicine

ISSN: 1528-3658