Table 3 of Aller, Mol Vis 2010; 16:495-500.

Table 3. Variants detected in this study


Nucleotide
change

SNP

Exon		 Amino
acid
change
Protein
location		 Number
of
alleles
Allele
frequency

Homozygotes

Heterozygotes

Origin
Isocoding
c.117G>A rs2297815 1 None LC1-PDZ1 111 0.383 20 71 N, S, G, H, C, R, T, A, E
c.1353T>Ca rs4979387 6 None PDZ2-LC2 263 0.674 96 71 N,S, G, H, C, R, T, E
c.1455G>A   7 None PDZ2-LC2 4 0.01 0 4 N, G
c.1486C>T   7 None PDZ2-LC2 1 0.003 0 1 Unknown
c.1515G>A rs34252199 7 None PDZ2-LC2 10 0.026 0 10 S, G, H
c.1886G>A   9 None LC3 18 0.046 6 6 S, N
c.2283C>T rs34963246 10 None LC3-PDZ3 30 0.077 3 24 S, G, H, S, C, T
c.2307C>T   10 None LC3-PDZ3 2 0.005 0 2 S, G
Missense
c.229A>T rs56204273 1 p.T77S Between LC1-PDZ1 1 0.003 0 1 N
c.1048C>T   4 p.R350W PDZ2 1 0.003 0 1 E
c.1148C>A   4 p.T383N Between PDZ2-LC2 2 0.005 0 2 N
c.1148C>G   4 p.T383S Between PDZ2-LC2 1 0.003 0 1 S
c.1309G>A   6 p.A437T Between PDZ2-LC2 6 0.015 0 6 S
c.1318G>A rs4978584 6 p.A440T Between PDZ2-LC2 88 0.226 16 55 N, S, G, C, R, T, E
c.1339G>A 6 p.D447H Between PDZ2-LC2 1 0.003 0 1 H  
c.1684C>G rs12339210 8 p.P562A Between LC2-LC3 39 0.1 2 35 N, S, G, H, C, R, T, E
c.1838T>Ca rs942519 9 p.M613T Between LC2-LC3 179 0.459 45 89 N, S, G, H, C, R, T, E
c.1884C>A 9 p.S628R LC2 1 0.003 0 1 E  
c.1943C>A 9 p.S648Y Between LC3-PDZ3 1 0.003 0 1 S  
c.2169G>A 9 p.M723I Between LC3-PDZ3 1 0.003 0 1 H  
c.2348T>C* rs2274159 10 p.V783A Between LC3-PDZ3 153 0.392 30 93 N, S, G, H, C, R, T, E
c.2388C>A rs2274158 10 p.N796K Between LC3-PDZ3 85 0.218 11 63 N, S, G, H, C, R, T, E
c.2644C>A
12 p.R882S PDZ3 1 0.003 0 1 S
Intronic
c.619–41A>G   2 None   1 0.003 0 1 H
c.837+41A>G   2 None   2 0.005 0 2 E, unknown
c.964–21A>G rs2274163 4 None   114 0.292 14 86 N, S, G, H, C, C, R, T, E
c.1203+114C>T   5 None   2 0.005 0 2 S
c.1416+151A>G rs4979385 6 None   19 0.049 2 15 S
c.1416+62delC   6 None   1 0.003 0 1 S
c.1416+22A>T rs4979386 6 None   77 0.197 8 61 N, S, G, H, C, T, E
c.1627–12G>A rs2274160 8 None   68 0.174 5 19 N, S, G, H, C, R, T, A, E
c.2236+84G>T rs10982200 9 None   8 0.021 0 8 G, H
c.2237–44C>T rs766835 10 None   3 0.008 0 3 N
c.2418+142A>G rs10739410 10 None   29 0.074 5 19 N, S
c.2419–199A>G   11 None   18 0.046 5 8 N, S
c.2419–118G>A rs55833018 11 None   12 0.031 0 12 S
c.2419–16T>C   11 None   1 0.003 0 1 G
c.2644–157C>T   12 None   2 0.005 0 2 G, S

The asterisk indicates previously reported as polymorphism by Tlili et al. [20]. Abbreviations: N represents The Netherlands, S represents Spain, G represents Germany, H represents Hungary, C represents Canada, R represents Russia, T represents Turkey, A represents Arabia), E represents Egypt, LC represents Low complexity protein domain.

Aller, Mol Vis 2010; 16:495-500. http://www.molvis.org/molvis/v16/a55

©2010 Molecular Vision http://www.molvis.org/molvis/

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