Table 2 of
Shan, Mol Vis 2005;
11:738-743.Table 2 of
Shan, Mol Vis 2005;
11:738-743.
Table 2. Mutations identified within CYP4V2 in BCD-affected families and patients
Different mutations identified within CYP4V2 in BCD-affected families and sporadic patients. The family and patient numbers can be distinguished by their first digits, "27" for families and "28" for patients. The asterisks indicate that the mutation has been identified previously by Li et al. [9] and Wada et al. [10].
Amino Type of
acid nucleotide Family and
DNA Change Exon change change patient numbers
------------------------- ---- --------- ------------ ---------------
367C->G 1 L22V Homozygous 27004, 28043
557C->T 2 R85C Heterozygous 27003
587G->A 2 G95R Heterozygous 27003
639T->G 3 L112X Heterozygous 27001, 28029
*IVS6-8delTCATACA- 7 Exon7del Homozygous 27005, 27008,
GGTCATCGCG/insGC 28038, 28041,
(3'[acceptor]splice site) 28042, 28044,
28051
Heterozygous 27002, 27006,
27007, 28045,
28049
*1296A->C 8 H331P Heterozygous 28049
*IVS8-2A->G 9 Exon9del Heterozygous 27002
(3'[acceptor]splice site)
1503G->A 9 R400H Heterozygous 27007
IVS9-6delTGACAGCAGGTTACAG 10 Exon10del Heterozygous 28029
(3'[acceptor]splice site)
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