Table 2 of
Chavarria-Soley, Mol Vis 2006;
12:523-531.Table 2 of
Chavarria-Soley, Mol Vis 2006;
12:523-531.
Table 2.
Single nucleotide polymorphism based haplotypes associated with CYP1B1 mutations. Mutation nomenclature (left column) is according to Dunnen and Antonarakis [28] and based on GenBank accession cDNA NM_000104. The previously used names (based on the genomic sequence U56438) of the respective mutations are listed in the second left column. The references show where the intragenic haplotype for the mutation was published. FS: frameshift. The mutations included in our study are indicated with an asterisk in the first column.
Mutation Haplotype
-------------------------------------------------------- ---------------------
Amino acid
Nucleotide variation Synonymous change Country Reference
---------------------------- ---------- ------------ - - - - - - -------- ----------
*c.1063C>T 7900C>T R355X C C G G T A Germany
*c.124C>T 3929C>T Q42X C C G G T A Germany
*c.155insC 3956insC FS C C G G T A Germany
*c.171G>A 3976G>A W57X C C G G T A Brazil, [19]
Germany
*c.182G>A 3987G>A G61E C C G G T A Saudi [4,6,16]
Arabia,
Morocco,
Ecuador
*c.1405C>T 8242C>T R469W C C G G T A Saudi [5]
Arabia
c.1120G>A 7957G>A D374N C C G G T A Saudi [5]
Arabia
*c.1103G>A 7940G>A R368H C C G G T A Brazil, [5,19]
Saudi
Arabia
*c.279delC 4081delC FS C C G G T A Turkey [15]
c.806_814delGCAACTTCA 4611del9 S268_F270del C C G G T A Saudi [5,14,17]
Arabia,
USA,
France
c.535delG 4340delG FS C C G G T A Brazil, [6,14,19]
France,
Morocco
*c.1064_1076delGAGTGCAGGCAGA 7901del13 FS C C G G T A Germany, [15,19]
Brazil
*c.1200_1209dupTCATGCCACC 8037dup10 FS C C G G T A Brazil, [15,17-19]
Costa
Rica,
Germany,
USA
c.1310C>T 8147C>T P437L C C G G T A Brazil [19]
*c.1377-1403dup 8214dup27 FS C C G G T A Turkey,
Germany
c.1331G>A 8168G>A R444Q - C G G T - Japan [13]
c.161insC 3964delC FS - C G G T - Japan [13]
c.575A>T 4380A>T D192V - C G G T - Japan [13]
c.230T>C 4035T>C L77P C C G C C G Saudi [5]
Arabia
*c.1033_1035delCTC 4832delCTC FS C C G C C G Germany
c.1345delG 8182delG FS C C G C C G Brazil [17,19]
c.1168C>A 8005C>A R390S - C G C C G Saudi [5]
Arabia
c.55C>T 3860C>T Q19X C C G C C A Brazil [17,19]
*c.1302G>A 8139G>A W434X C C G C C A Germany
c.840C>A 4645C>A C280X - C G C C - Japan [13]
c.971_972insAT 4776insAT FS - C G C C - Japan [13]
c.978G>T, 979C>T 4793G>T, A330F - C G C C - Japan [13]
4794C>T
c.1090G>A 7927G>A V364M - C G C C - Japan [13]
c.1331G>A 8168G>A R444Q - C G C T A Japan [12]
*c.433_442delCGGCGCGCAG 4238del10 FS T G T C C A Saudi [5]
Arabia
*c.1159G>A 7996G>A E387K T G T C C A Brazil, [7,17,19]
Romania,
USA,
Slovakia
*c.685G>A 4490G>A E229K T G T C C A France, [14]
Germany
*c.241T>A 4046T>A Y81N T G T C C A France,
Germany
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