Case No | Mutation | Exon | Codon | Nucleotide change | Effect on coding | Phenotype | References |
---|---|---|---|---|---|---|---|
Missense | |||||||
1 | S71R | 2 | 71 | AGC→AGAat 213 | Ser→Arg | Severe | This report |
2 | A82E | 3 | 82 | GCA→GAA at 245 | Ala→Glu | NA | This report |
3 | A85T (438T) | 3 | 85 | GCC→ACC at 253 | Ala→Thr | Severe | This report |
4 | R88C (438T) | 3 | 88 | CGC→TGC at 262 | Arg→Cys | NA | This report |
5 | S333L | 7 | 333 | TCG→TTG at 998 | Ser→Leu | Severe | 14 |
6 | D334G | 7 | 334 | GAT→GGT at 1001 | Asp→Gly | Severe | 14 |
7 | 1006G→A | 7 | 336 | G/gt→A/gt | Splicing error (?) | Severe | 14 |
8 | A346V (438T) | 8 | 346 | GCC→GTC at 1037 | Ala→Val | Severe | 15 |
9 | R468W | 9 | 468 | CGG→TGG at 1402 | Arg→Trp | NA | This report |
10/11 | R468Q/(438T) | 9 | 468 | CGG→CAG at 1403 | Arg→Gln | Severe | 15/this report |
12 | E521V | 9 | 521 | GAA→GTA at 1562 | Glu→Val | NA | This report |
Nonsense | |||||||
13 | Y234X | 5 | 234 | TAC→TAAat 702 | Tyr→term | Severe | 14 |
14 | L279X | 6 | 279 | TTA→TGA at 836 | Leu→term | Severe | 16 |
15 | Q465X | 9 | 465 | CAG→TAG at 1393 | Gln→term | Severe | 14 |
16 | W502X | 9 | 502 | TGG→TAG at 1505 | Trp→term | NA | 17 |
Deletions | |||||||
17 | ΔR95 (438T) | 3 | 95 | 2-151GGC aggAGA at 283 | Lost 1 aa | Severe | This report |
18 | 383delAT | 3 | 128 | 2-151GGCT atGTG at 383 | FS/PT | Severe | This report |
19/20 | 596delAACA | 5 | 199 | 2-151GACA aacaG at 596 | FS/PT | Severe | This report |
21 | 1148delC | 8 | 383 | 2-151GACC c TTTT at 1148 | FS/PT | Severe | This report |
22 | 1216delCT | 9 | 406 | 2-151TCT ctTTTT at 1216 | FS/PT | NA | This report |
23 | 1220delTT | 9 | 407 | 2-151CTTT ttCCC at 1220 | FS/PT | Severe | 17 |
Insertion | |||||||
24 | 208insC (438T) | 2 | 70 | 2-151TCCC cACAGC after 208 | FS/PT | NA | This report |
25 | 1063insA | 8 | 355 | 2-151GCTA aCCCAT after 1063 | FS/PT | Severe | This report |
26 | 1269insCC (438T) | 9 | 423 | 2-151TGCCCC ccGTT after 1269 | FS/PT | Severe | 15 |
Splicing | |||||||
27 | 1006+5g→c | (IVS-7) | g→c at 1006+5 | Splicing in 22 nuct | NA | This report | |
28 | 1122C→T | 8 | 374 | AGGC→AG/gt | Lost 20 aa | NA | This report |
Large deletion | |||||||
29 | Intragenic del | del exons 4-7 | Aberrant transcripts | Severe | This report | ||
Polymorphism | |||||||
438C/T | 4 | 146 | ACC→ACT | Silent mutation | 15 |
↵2-150 Nucleotide numbered from translational initiation site.9
Underline denotes mutant nucleotide or nucleotide immediately before insertion.
↵2-151 Denotes the wild type codon before deletion or insertion.
Small capital letters denote deleted or inserted nucleotides.
aa = amino acid, del = deletion, ins = insertion, IVS = intervening sequence (intron), FS = frameshifting, PT = premature termination, term = stop codon, NA = clinical data not available for subtype classification.