Terminology
Original report: This field is the note when a mutation was originally submitted.
Updated phenotypic details: please see the "2002 update" on the "About CFMDB" for this field.
Missense: A base pair change in DNA sequence that results in the substitution of one amino acid for another.
Nonsense: A base pair change in DNA sequence that causes translation to stop.
Frameshift: insertion or deletion of base(s) in DNA sequence that results in shift in the reading frame during translation.
In frame in/del: insertion or deletion of bases in DNA sequence that does not result in shift in the reading frame during translation.
Large in/del: insertion or deletion of large number of bases in DNA sequence.
Sequence Variation: sometimes designated as "polymorphism", indicating that it is "non-disease causing". According to the general definition in human genetics, a "polymorphism" has to reach an allelic frequency of 1%. In addition, when a sequence variation is found in one single individual, it is not possible to determine if it is "non-disease causing".
Splicing: a mutation that causes mRNA splicing defect.
Promotor: a mutation that happens at promotor region.
Frequenctly asked questions
1. What is the CFTR cDNA accession number?
The CFTR cDNA accession number is M28668.
2. How many mutations are currently listed on this web site?
There are currently 1604 mutations listed on this web site.
3. Please explain the nucleotide change for mutation [delta]F508 and mutation [delta]I507?
The nucleotide change of [delta]F508 - "deletion of three bp between nucleotides 1652 to 1655" means any 3 consecutive nucleotides in this range of 4 nucleotides: either T(1652)C(1653)T(1654) or C(1653)T(1654)T(1655). Both 3 bp deletions lead to the same DNA sequence: A(1651)TTT(1656)G(1657).
The [delta]I507 is much easier to understand because of the two consecutive isoleucine codons (ATC) between nucleotides 1648 and 1653 e.g. A(1648)T(1649)C(1650) - A(1651)T(1652)C(1653). Deletion of any of 4 consecutive 3b in this range (1648-1653) would produce the same sequence.
