Mutation name
|
Exon/intro n
|
Nucleotide change
|
Effect on coding sequence, amino acid change
|
Codon
|
Predicted protein product
|
Patient origin
|
No
|
Ref
|
Missense | | | | | | | | |
G120S | Exon 4 | G>A at 358 | Glycine→serine at 120 | 120 | Conserved residue | Poland, Sweden, Norway | 3 | 3 |
H124L | Exon 4 | A>T at 371 | Histidine→leucine at 124 | 124 | Conserved residue | Poland, Sweden (Polish origin) | 3 | 1 |
P131R | Exon 5 | C>G at 392 | Proline→arginine at 131 | 131 | Partially conserved | USA | 2 | 3 |
S206P | Exon 6 | T>C at 616 | Serine→proline at 206 | 206 | Conserved residue | Holland (Morocco origin) | 1 | 17 |
D468V | Exon 12 | A>T at 1403 | Aspartic acid→valine at 468 | 468 | Conserved residue | Poland | 1 | 17 |
L496R | Exon 13 | T>G at 1487 | Leucine→arginine at 496 | 496 | Partially conserved | Hong Kong | 3 | 2 |
I544N | Exon 15 | T>A at 1631 | Isoleucine→asparagine at 544 | 544 | Conserved residue | Vietnam | 2 | 17 |
Nonsense | | | | | | | | |
G187X
| Exon 5 | G>T at 559 | Glycine→STOP at 187 | 187 | Truncated | Saudi Arabia, Kuwait | 9 | 2 |
Y305X | Exon 8 | C>A at 915 | Tyrosine→STOP at 305 | 305 | Truncated | Poland | 2 | 3 |
Q436X | Exon 11 | C>T at 1306 | Glutamine→STOP at 436 | 436 | Truncated | Holland | 1 | 17 |
Deletion | | | | | | | | |
344delT | Exon 4 | Deletion of T at 344 | Frameshift | 115 | Truncated | Poland | 2 | 1 |
3.5 kb deletion | Intron 6–8 | Deletion of 3.5 kb genomic DNA | Loss of exons 7 and 8, frameshift | | Deleted | Japan | 2 | 17 |
V317del
| Exon 8 | Deletion of GGT at 951–953 | In frame loss of a valine at 317 | 317 | Present, function abnormal | Finland, Sweden (Finnish origin) | 41 | 1 |
1342–1343delTT | Exon 12 | Deletion of TT at a342–1343 | Frameshift | 448 | Truncated | Japan | 1 | 16 |
1516delC | Exon 14 | Deletion of C at 1516 | Frameshift | 505 | Truncated | Poland | 1 | 3 |
1548–1551delAACC | Exon 14 | Deletion of AACC at 1548–1551 | Frameshift | 516 | Truncated | Poland | 1 | 3 |
Y527del | Exon 14 | Deletion of TTA at1578–1580 | In frame loss of a tyrosine at 527 | 527 | Deleted | Poland | 1 | 3 |
1609delA | Exon 15 | Deletion of A at 1609 | Frameshift | 537 | Truncated | Canada | 1 | 2 |
2116delA | Exon 19 | Deletion of A at 2116 | Frameshift | 706 | Truncated | Finland | 1 | 3 |
Insertion | | | | | | | | |
177–178insC | Exon 3 | Insertion of C at 177–178 | Frameshift | 60 | Truncated | USA | 1 | 3 |
268–269insAA | Exon 3 | Insertion of AA at 268–269 | Frameshift | 90 | Truncated | Hong Kong | 3 | 3 |
I675–676ins
| Exon 18 | Insertion of ATC at 2025–2026 | In frame addition of an isoleucine | 676 | | Poland | 12 | 3 |
Replacement | | | | | | | | |
2104–2105delGGins29bp | Exon 19 | Replacement of GG with 29 bp insertion | Frameshift | 703 | Truncated | Norway | 2 | 17 |
Splice defect | | | | | | | | |
IVS5–2A>G | Intron 5 | A>G at 571–2 | Destruction of the intron acceptor site AG | | | Canada | 1 | 3 |
IVS5–1G>T | Intron 5 | G>T at 571–1 | Destruction of the intron acceptor site AG | | | USA | 1 | 3 |
IVS11–1G>A | Intron 11 | G>A at 1312–1 | Destruction of the intron acceptor site AG | | | Poland | 1 | 3 |
IVS12–1G>C | Intron 12 | G>C at 1408–1 | Destruction of the intron acceptor site AG | | | Germany (Palestine) | 1 | 17 |
IVS13–2delA | Intron 13 | Deletion of A at 1515–2 | Destruction of the intron acceptor site AG | | | Kuwait | 1 | 17 |