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Not confirmed/unspecified dystrophin sequence variations

(last modified April 17, 1999)

Introduction

In this section, we list three types of dystrophin sequence variations, derived from;

Version 990417

Exon DNA RE-site RNA Protein Freq. Phenotype Reference DNA/RNA Technique Remark
6 606A/C   (?) Gln/Pro133   normal X14298, Rininsland RNA SEQ potential RFLP from GenBank comparisons
13 unknown   (?) - 11/60 normal Nigro DNA SSCA
14 1878T/C   (?) Ile/Thr557   normal X06179 RNA SEQ potential RFLP from GenBank comparisons
14 1882T/G   (?) Leu/Leu559   normal X14298 and X06178, Rininsland RNA SEQ potential RFLP from GenBank comparisons
16 2075C/A   (?) Leu/Ile623   normal X14298 and X06178, Rininsland RNA SEQ potential RFLP from GenBank comparisons
17 unknown   (?) - 1/57 normal Nigro DNA SSCA
19 2559C/G -AluI (?) Ala/Gly784   normal X14298, Rininsland RNA SEQ potential RFLP from GenBank comparisons
20 unknown   (?) -   normal Ferrari ASHG95
23 3158-38T/G   (?) -   normal L05636, L11637 DNA SEQ potential RFLP from GenBank comparisons
23 3158-52T/G   (?) -   normal L05636, L11637 DNA SEQ potential RFLP from GenBank comparisons
23 3328T/C   (?) Cys/Cys1040   normal DB: Leiden RNA PTT 2 bp from delA
23 3370+9G/A   (?) -   normal L05636, L11637 DNA SEQ potential RFLP from GenBank comparisons
23 3371-135-3371-120del   (?) -   normal L05637, L11638 DNA SEQ potential RFLP from GenBank comparisons
23 3371-14delG   (?) -   normal L05637, L11638 DNA SEQ potential RFLP from GenBank comparisons
23 3371-29delG   (?) -   normal L05637, L11638 DNA SEQ potential RFLP from GenBank comparisons
23 3371-4delT   (?) -   normal L05637, L11638 DNA SEQ potential RFLP from GenBank comparisons
25 unknown   (?) -   normal Ferrari ASHG95
26 3797G/T   (?) Val/Phe1197   normal X14298, Rininsland RNA SEQ potential RFLP from GenBank comparisons
30 4339A/T   (?) Lys/Asn1377   normal X14298, Rininsland RNA SEQ potential RFLP from GenBank comparisons
35 5185C/T   (?) Asn/Asn1659   normal X14298, Rininsland RNA SEQ potential RFLP from GenBank comparisons
39 5740A/C   (?) Arg/Ser1844   normal X14298 RNA SEQ potential RFLP from GenBank comparisons
45 unknown   (?) - 3/51 normal Nigro DNA SSCA
48 unknown   (?) - 2/33 normal Nigro DNA SSCA

Legend:
Exon: exon numbering according to Roberts et al., if in bold, the mutation has been identified more than once. DNA: mutation at DNA level, described basically as suggested by the AHCMN and Beutler et al.. For minor deviations/additions used see Nomenclature. Nucleotide numbering according to Koenig et al., with intronic nucleotides indicated with a + or - with respect to nearest coding nucleotide. RE-site: the mutation creates (+) or destroys (-) a resctriction enzyme recognition site. RNA: effect of mutation on RNA: (=) = RNA change identical to DNA change, effect on splicing unknown (but probably none). Protein: deduced effect of mutation on protein (usually no experimental proof): fs = causes frame shift mutation, X = stop mutation, ? = unknown. Freq.: mean of frequencies reported. Reference: with "DB: " indicating that the mutation was submitted directly to this database. DNA/RNA: mutation detected in;  DNA = DNA, RNA = RNA and DNA. Technique: technique used for mutation detection: PTT = protein truncation test, SEQ = comparison of database entries. Remark: remark regarding variation reported.

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