DBASS5 - Record Details
| Gene |
DMD (Ensembl) |
Location of Aberrant 5' Splice Site | Intron |
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| Phenotype |
Muscular dystrophy (OMIM 1, OMIM 2, OMIM 3, OMIM 4) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
+57
|
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| Mutation | IVS64+5G>C | Change in the Reading Frame |
0
|
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| Reference(s) |
Roest, P. A., Bout, M., van der Tuijn, A. C., Ginjaar, I. B., Bakker, E., Hogervorst, F. B., van Ommen, G. J., and den Dunnen, J. T. (1996). Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD. J Med Genet 33, 935-939. Pub Med Article # 8950674 |
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| Nucleotide Sequence[a] | tatgttttct aggctatttt tgtggtggtt gtagttattg gcaaatcact gggcgtcggg ggtgggttgt ctgttatttc tgatggaata acaaatgctc tttgttttcc ctcttttcag CTGACCTGAA TAATGTCAGA TTCTCAGCTT ATAGGACTGC CATGAAACTC CGAAGACTGC AGAAGGCCCT TTGCTgtaa( g>c)tattgg ccagtatttg aagatcttga tactatgtct ttgcttagaa taaaaa/gta ggttgggtac atttttactt agagagggga gaaacagctg tcacaattcc tgttgcaatg tataattcat tctttaatgt atccttggcc tagagtttgc ctagaatgtt ttgttttatt | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model [1] |
4.47
|
6.84
|
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| Maximum Dependence Decomposition Model [2] |
10.08
|
9.58
|
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| First Order Markov Model [1] |
4.89
|
6.49
|
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| Weight Matrix Model [1] |
7.17
|
7.17
|
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chrX:31222989/31222990 |
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| Mutation |
chrX:31223042 |
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Legend
- [a] /, cryptic or de novo splice sites; > nucleotide substitutions; (), deletions; [], duplications or insertions. Intronic sequences are in lower case (in blue), exons are in upper case (in green)
- [b] Shapiro and Senapathy matrix scores were calculated according to an algorithm published previously (1). Maximum entropy and the first-order Markov and weight matrix models were computed as described (2)
References
- Shapiro, M.B. and Senapathy, P. (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res., 15, 7155-7174.
- Yeo, G. and Burge, C.B. (2004) Maximum entropy modelling of short sequence motifs with applications to RNA splicing signals. J. Comput. Biol., 11, 377-394.
- Burge, C. 1998. Modeling dependencies in pre-mRNA splicing signals. In Computational methods in molecular biology (eds. S.L. Salzberg et al.), chapter 8, pp. 129–164. Elsevier Science, Philadelphia, PA.