|
| Mutation | Published Name | Amino acid change | Exon | Type |
|
| 24C>G | | N8K | exon 1 | AA substitution |
|
|
| Comment | A complex allele of four point mutations; the other mutations are: 542C>T, 732G>C and 755A>G. |
| Source | Auerbach lab; January 27, 1997 |
|
| 65G>A | | W22X | exon 1 | stop codon |
|
|
| Comment | |
| Source | Auerbach lab 4/23/97 |
|
| 401insC | | | exon 4 | frameshift |
|
|
| Comment | Eliminates DRA III site. Creates a frameshift that adds 45 AA after residue 134 and then creates a stop codon. |
| Source | Auerbach lab 4/23/97 |
|
| 542C>T | | A181V | exon 6 | AA substitution |
|
|
| Comment | A complex allele of four point mutations; the other mutations are: 24 C>T, 732G>C and 755A>G. |
| Source | Auerbach lab; November 21, 1996 |
|
| IVS7+1G>A | | | intron 7 | RNA splicing |
|
|
| Comment | |
| Source | Auerbach lab; December 1996 |
|
| IVS7+5G>A | 709+5G->A | | intron 7 | RNA splicing |
|
|
| Comment | splice site mutation leading to D237G + ins AFMTRCGFLD (secondary to insertion of 30 bp of intronic sequence) |
| Source | Lo Ten Foe et al. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nature Genetics 14:320-323 (1996) |
|
| IVS7+5G>T | 709+5G->T | | intron 7 | RNA splicing |
|
|
| Comment | splice site mutation leading to D237G + ins AFMTRCGFLD (secondary to insertion of 30 bp of intronic sequence) |
| Source | Lo Ten Foe et al. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nature Genetics 14:320-323 (1996) |
|
| 732G>C | | L244F | exon 8 | AA substitution |
|
|
| Comment | A complex allele of four point mutations; the other mutations are: 24 C>T, 542C>T and 755A>G. |
| Source | Auerbach lab; November 1996 |
|
| 755A>G | | D252G | exon 8 | AA substitution |
|
|
| Comment | A complex allele of four point mutations; the other mutations are: 24 C>T, 542C>T and 732G>C. |
| Source | Auerbach lab; December 5, 1996 |
|
| IVS11-1delG | | | intron 11 | RNA splicing |
|
|
| Comment | |
| Source | Auerbach lab; December 1996 |
|
| 894-1006del | 938-1050del | | exon 11 | frameshift |
|
|
| Comment | frameshift; premature stop codon 2 amino acids downstream of C297 (297+CI) |
| Source | FAB consortium. Positional cloning of the Fanconi anaemia group A gene. Nature Genetics 14:324-328 (1996) |
|
| 987-990del | | | exon 11 | frameshift |
|
|
| Comment | Deletion of one out of two TCAC repeats. Frame shift starts at aa 330H (ALCX) Premature stop codon at aa 333. |
| Source | Auerbach lab; December 1996 |
|
| 1115-1118del | 1159-1162delTTGG | | exon 13 | Frameshift |
|
|
| Comment | premature stop codon 42 amino acids downstream of V371 |
| Source | FAB consortium. Positional cloning of the Fanconi anaemia group A gene. Nature Genetics 14:324-328 (1996) |
|
| 1303C>T | | R435C | exon 14 | AA substitution |
|
|
| Comment | |
| Source | Auerbach lab; January 10, 1997 |
|
| 1360-1826del | 1391del467 | | exon 15 | frameshift |
|
|
| Comment | premature stop codon leading to truncated protein of 455 amino acids (453 + S + R) |
| Source | Lo Ten Foe et al. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nature Genetics 14:320-323 (1996) |
|
| 1459insC | | | exon 15 | frameshift |
|
|
| Comment | inserts 55 new AA and a stop codon. |
| Source | Auerbach lab 8/7/97 |
|
| 1471-1626del | 1515-1670del | | exon 16 | Deletion |
|
|
| Comment | in-frame deletion 52 amino acids at position 491491-542 |
| Source | FAB consortium. Positional cloning of the Fanconi anaemia group A gene. Nature Genetics 14:324-328 (1996) |
|
| 1475A>G | | H492G | exon 16 | AA substitution |
|
|
| Comment | Inheritance confirmed by SSCP. |
| Source | Auerbach lab; November 1996 |
|
| 1627-1900del | 1671-1944del | | exon 18 | frameshift |
|
|
| Comment | frameshift & premature stop codon 6 amino acids downstream resulting in a truncated protein of 548 amino acids (542+MQPWE) |
| Source | FAB consortium. Positional cloning of the Fanconi anaemia group A gene. Nature Genetics 14:324-328 (1996) |
|
| 1771C>T | | R591X | exon 19 | stop codon |
|
|
| Comment | Inheritance confirmed in the family by SSCP. |
| Source | Auerbach lab; November 19, 1996 |
|
| 1944delG | | | exon 22 | frameshift |
|
|
| Comment | Creates a frameshift that adds 12 A.A and then a stop codon. |
| Source | Auerbach lab 6/13/97 |
|
| 1901-2778del | 1932del879 | | exon 23 | Deletion |
|
|
| Comment | Deletion of exons 22-28. Originally reported as an 879 bp deletion resulting in D634V, in frame deletion of 293 amino acids. Jan Pronk reports this to be an 878 bp deletion based on his analysis of AnnaÕs (genomic?) data. |
| Source | Lo Ten Foe et al. Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nature Genetics 14:320-323 (1996) |
|
| 2450T>C | | L817P | exon 26 | AA substitution |
|
|
| Comment | |
| Source | Auerbach lab; December 1996 |
|
| 2524delT | | | exon 27 | frameshift |
|
|
| Comment | Causes a frame shift that inserts 46 A.A and then a stop codon. |
| Source | Auerbach lab 5/19/97. |
|
| 2534T>C | | L845P | exon 27 | AA substitution |
|
|
| Comment | |
| Source | Auerbach Lab 5/19/97 |
|
| 2535-2536del | | | exon 27 | frameshift |
|
|
| Comment | Deletion of 1 out of 4 CT. Frame shift at aa 845L . stop codon after 20 aa.QVFFPVTRYFVQLLISRPYX |
| Source | Auerbach lab; December 1996 |
|
| IVS29 -19 del19 | | | intron 29 | RNA splicing |
|
|
| Comment | 19 bp deletion between GCAG repeats (one of them is deleted). The deletion starts at position -19 in IVS 29. It is probably a splicing mutation and could also be a frame shift |
| Source | Auerbach lab; January 10, 1997 |
|
| 2830ins19 | 2831dup2812-2830 | | exon 29 | frameshift |
|
|
| Comment | 19 bp insertion; duplication of bases 2812-2830. Results in a frameshift. 943 + GNST + XNot found in 100 normal chromosomes. |
| Source | A. Savoia; February 14, 1997Auerbach lab 8/7/97 |
|
| 2840C>G | | S947X | exon 29 | stop codon |
|
|
| Comment | |
| Source | Auerbach 8/7/97 |
|
| 3091C>T | | Q1031X | exon 32 | stop codon |
|
|
| Comment | Eliminates PstI site. |
| Source | Auerbach lab 8/7/97 |
|
| 3164G>T | | R1055L | exon 32 | AA substitution |
|
|
| Comment | |
| Source | Auerbach lab; January 10, 1997 |
|
| 3188G>A | | W1063X | exon 32 | stop codon |
|
|
| Comment | |
| Source | Auerbach lab 8/7/97 |
|
| 3349A>G | | R1117G | exon 34 | AA substitution |
|
|
| Comment | |
| Source | Auerbach lab 8/7/97 |
|
| 3382C>G | | Q1128E | exon 34 | AA substitution |
|
|
| Comment | |
| Source | Auerbach lab; January 10, 1997 |
|
| 3391A>G | | T1131A | exon 34 | AA substitution |
|
|
| Comment | |
| Source | Auerbach lab 8/7/97 |
|
| 3396-3399del | | | exon 34 | frameshift |
|
|
| Comment | Causes an insertion of 5 new A.A and then a stop codon. |
| Source | Auerbach lab 8/7/97 |
|
| 3520-3522del | | | exon 36 | deletion |
|
|
| Comment | In frame deletion of trp residue at position 1174.Inheritance confirmed in two families by SSCP. |
| Source | Auerbach lab; November 19, 1996 |
|
| 3715-3729del | | | exon 37 | Deletion |
|
|
| Comment | In frame deletion of 5 amino acids between repeats. Eliminates MboII site. 1239-1254delNot found in 70 control alleles screened. |
| Source | Auerbach lab; September 1996 |
|
| 3760-3761del | | | exon 37 | Frameshift |
|
|
| Comment | frame shift; premature stop codon after 25 amino acids after residue 1254 (1254 + 25) |
| Source | Auerbach lab; September 1996 |
|
| 3788-3790del | | | exon 38 | deletion |
|
|
| Comment | del phe 1263 |
| Source | Auerbach lab; December 5, 1996also found by J. Pronk; reported 2/14/97 |
|
| 3859G>A | | V1287I | exon 39 | AA substitution |
|
|
| Comment | Not found in 70 control alleles screened by SSCP.Inheritance confirmed by SSCP. |
| Source | Auerbach lab; November 1996 |
|
| 3884T>A | | L1295X | exon 39 | stop codon |
|
|
| Comment | |
| Source | Auerbach |
|
| 3904T>C | | W1032R | exon 39 | AA substitution |
|
|
| Comment | |
| Source | Auerbach lab |
|
| 4069-4082del | | | exon 41 | frameshift |
|
|
| Comment | Creates a frameshift that adds 83 AA and a stop codon. |
| Source | Auerbach lab 5/22/97 |
|
| 4249C>G | 4294C>G | H1417D | exon 42 | AA substitution |
|
|
| Comment | Creates DdeI site; not found in 70 control alleles screened. |
| Source | Auerbach lab; November 19, 1996 |
|
