Location | Substitution | Genotype 72 Cell Lines1-a (48 Subjects)1-b | |||
---|---|---|---|---|---|
Nucleotide | Amino Acid | w/w | w/m | m/m | |
5′-Flanking | t-751a | 71 | 1 | 0 | |
5′-Flanking | c-717t | 71 | 1 | 0 | |
5′-UTR | c-24t | 52 (31) | 14 (16) | 6 (1) | |
5′-UTR | g-23a | 70 | 2 | 0 | |
Exon 2 | c56t | P19L | 71 | 1 | 0 |
Exon 3 | a234g | L78L | 71 | 1 | 0 |
Exon 3 | g299a | R100Q | 71 | 1 | 0 |
Exon 7 | g842a | S281N | 71 | 1 | 0 |
Exon 10 | g1249a | V417I | 59 (37) | 9 (10) | 4 (1) |
Exon 10 | c1457t | T486I | 69 | 2 | 1 |
Exon 18 | c2302t | R768W | 72 (47) | 0 (1) | 0 (0) |
Exon 18 | c2366t | S789F | 71 (47) | 1 (1) | 0 (0) |
Exon 20 | g2647a | D883N | 71 | 1 | 0 |
Exon 21 | a2882g | K961R | 71 | 1 | 0 |
Exon 22 | g2934a | S978S | 66 | 5 | 1 |
Exon 22 | c3039t | T1013T | 71 | 0 | 1 |
Exon 22 | g3057t | Q1019H | 71 | 1 | 0 |
Exon 24 | g3321t | L1107L | 71 | 1 | 0 |
Exon 25 | g3521a | R1174H | 71 | 1 | 0 |
Exon 25 | t3563a | V1188E | 71 | 1 | 0 |
Exon 26 | t3732g | N1244K | 71 | 0 | 1 |
Exon 28 | c3972t | I1324I | 49 (29) | 14 (17) | 9 (2) |
Exon 29 | c4100g | S1367C | 71 | 1 | 0 |
Exon 30 | g4290t | V1430V | 71 | 1 | 0 |
Exon 31 | g4348a | A1450T | 72 (47) | 0 (1) | 0 (0) |
Exon 31 | c4488t | H1496H | 71 | 1 | 0 |
Exon 32 | g4544a | C1515Y | 71 | 1 | 0 |