Exon | Nucleotide change | Familial† | Sporadics‡ | Controls | Amino acid change | FA database§ |
---|---|---|---|---|---|---|
*FA associated variant; †frequency is shown as the number of alleles containing the nucleotide in parentheses over the total number of alleles examined from familial pancreatic cancer samples; ‡ND, not determined; §Y indicates present and N indicates not present in the Fanconi Anemia Mutation Database at http://www.rockefeller.edu/fanconi/mutate/jumpa.html. DNA numbering is based on the cDNA sequence. The GenBank reference sequence and version number NM_000135.1 was used. Position +1 corresponds to the A of the ATG translation initiation codon. Protein sequences are numbered with the initiator methionine as codon 1. | ||||||
4 | c.377C>G | 1/44(G) | ND | 0/115 | p.Thr126Arg | N |
7 | c.661A>G | 1/44(G) | ND | 0/115 | p.Met221Val | N |
13 | c.1143G>T | 6/44(T) | ND | ND | None | Y |
14 | c.1235C>T | 3/44(T) | ND | ND | p.Ala412Val | Y |
16 | c.1501G>A | 12/44(A) | ND | ND | p.Gly501Ser | Y |
22 | c.1927C>G | 8/44(G) | ND | ND | p.Pro643Ala | Y |
26 | c.2426A>G | 19/44(G) | ND | ND | p.Glu809Asp | Y |
27 | c.2574C>G* | 5/154(G) | 1/124 | 18/848 | p.Ser858Arg | Y |
30 | c.2901C>T | 5/44(T) | ND | ND | None | Y |
33 | c.3263C>T | 7/44(T) | ND | 8/115 | p.Ser1088Phe | Y |
37 | c.3654A>G | 7/44(G) | ND | ND | None | Y |
38 | c.3807G>C | 5/44(C) | ND | ND | None | Y |