Skip to main content
. Author manuscript; available in PMC: 2015 Aug 1.
Published in final edited form as: Clin Genet. 2013 Sep 17;86(2):142–148. doi: 10.1111/cge.12241

Table 2.

Summary of B3GALTL pathogenic alleles and their frequencies in patient and general populations.

PPS Allelea Distribution in PPSb Allele frequency in general populations
Occurrence Frequency EVS (EA)c EVS (AA)d dbVare
B3GALTL deletion 3 3.85% - - 0.01% (4/32954) 4/16296 Asian 0/13627 Caucasian 0/3031 Other
c.168dupA,p.(Gly57Argfs*11) 1 1.28% 0 0 -
c.230dupT, p.(Leu77Phefs*27) 1 1.28% 0 0 -
c.347+5G>A 1 1.28% 0 0 -
c.347+5G>T 1 1.28% 0 0 -
c.459+1G>A 4 5.13% 0 0 -
c.597−2A>G 4 5.13% 0 0 -
c.660+1G>A 54 69.23% 0.08% (7/8598) 0 -
c.1045G>A,p.(Asp349Asn) 1 1.28% 0 0 -
c.1065−1G>A 3 3.85% 0 0 -
c.1098T>A, p.(Tyr366*) 2 2.56% 0 0 -
c.1178G>A, p.(Gly393Glu) 1 1.28% 0 0 -
c.1181G>A, p.(Gly394Glu) 1 1.28% 0 0.02% (1/4406) -
c.1234C>T,p.(Arg412*) 1 1.28% 0 0 -
a

Novel alleles identified in this study are indicated in bold

b

Only independent probands were included (references 2–11 and this study);

c

European American Alleles; allele count ranged from 8592 to 8600;

d

African American Alleles; allele count ranged from 4402 to 4406;