No. Region Codon Nucleotide change Amino acid or other change change Restriction site alteration Allele frequency Reference
1 5'UTR -512nt c.-514_-511dup   MboII   Azevedo et al. [2003]
2 5'UTR   c.-441G>A       Azevedo et al. [2003]
3 5'UTR   c.-365G>A   TseI Fnu4HI BbvI   Azevedo et al. [2003]
4 5'UTR   c.-339A>G       Azevedo et al. [2003]
5 Exon 1 12 c.34G>A p.Ala12Thr TseI CviRI Fnu4HI BbvI   Tanaka et al. [2005]
6 Exon 2 46 c.137A>G p.Lys46Arg DdeI   Grompe et al. [1989]
7 Intron 2   c.217-54insA       Matsuura et al. [1993]
8 Exon 3 78 c.234A>G p.Gln78Gln   1.00/0.00 Climent and Rubio [2002a]
9 Intron 3   c.299-39_40insT     0.66/0.34 Climent and Rubio [2002a]
10     c.299-16_17insT     0.00/1.00 Climent and Rubio [2002a]
11     c.299-17insT       Matsuura et al. [1993]
12     c.299-8A>T   MseI Tsp509I 0.50/0.50 Tuchman and Plante [1995]
13 Exon 4 101 c.303A>T p.Leu101Pheb EspI, DdeI 0.99/0.01 Tuchman and Plante [1995]
14   111 c.332T>C p.Leu111Pro   1.00/0.00 Grompe et al. [1991]
15 Intron 4   c.386+8A>G   SspI 0.98/0.02 Tuchman and Plante [1995]
16     c.387-7A>G     0.71/0.29 Matsuura et al. [1993]
17 Exon 5 143 c.429T>C p.Tyr143Tyr TatI, RsaI 0.98/0.02 Plante and Tuchman [1998]
18   151 c.453G>T p.Leu151Leu SecI BssKI EcoRII ScrFI BseBI CviJI 1.00/0.00 Climent and Rubio [2002a]
19 Intron 5   c.541-63G>A   DdeI, MseI   Azevedo et al. [2003]
20 Exon 6 193 c.579G>T p.Trp193Cys BsiYI MboI DpnI BstKTI BinI 1.00/0.00 Climent and Rubio [2002a]
21   194 c.580A>T p.Ile194Phe MboI DpnI BstKTI BinI 1.00/0.00 Climent and Rubio [2002a]
22   195 c.585G>A p.Gly195Gly FokI, BstF5I 1.00/0.00 Tuchman et al. [1998]
23 Exon 8 270 c.809A>G p.Gln270Arg   0.875/0.125 Tuchman et al. [1992]
24   279 c.837G>A p.Gln279Gln Eco57MI GsuI BssKI EcoRII BseBI ScrFI HindIII AluI CviJI 1.00/0.00 Climent and Rubio [2002a]
25   285 c.855G>A p.Gln285Gln SexAI BssKI EcoRII BSeBI ScrFI 1.00/0.00 Climent and Rubio [2002a]
26 Intron 8   c.867+35G>T     0.62/0.38 Azevedo et al. [2002]
27 Exon 9 333 c.997A>G p.Thr333Ala     Climent and Rubio [2002a]
28 Intron 9   c.1006-70C>T   HphI EcoNI BsiYI   Azevedo et al. [2003]
29     c.1006-12G>T     1.00/0.00 Matsuura et al. [1993]
aThe reference sequence used is RefSeq NM_000531.3
bIn RefSeq NM_000531.3 position 101 is a Phe. We more commonly see Leu at this position.