DBASS3 - Record Details
| Gene |
LMNA (Ensembl) |
Location of Aberrant 3' Splice Site | Intron |
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| Phenotype |
Familial dilated cardiomyopathy (OMIM) |
Distance between Authentic and Aberrant 3' Splice Site (nt) |
-40
|
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| Mutation | c.937-11C>G | Change in the Reading Frame |
+1
|
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| Reference(s) |
Carboni N, Floris M, Mateddu A, Porcu M, Marrosu G, Solla E, et al. Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5. Muscle Nerve. 2011 May;43(5):688-93. Pub Med Article # 21462202 |
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| Nucleotide Sequence[a] | ttcttaatct ccctaactca gagttgccac aggactctgc aatgtgaggt gttaaaagca tcagtatttt tctagttggc tgtgctattt gtgacaggag aaaaagtcta gcctcagaac gagaggtttc agttagacaa ggggaaggac ttcccagttg ccagccaaga ctatgtttag agcttgtgat gttcagagct ggctctgatg agggctctgg ggaagctctg attgcagatc ctggagagag tagccaggtg tctcctacac cgacccacgt ccctccttcc ccatacttag /ggcccttgg gagctcacca aaccctccca (c>g)ccccc ttcagCTGGC AGCCAAGGAG GCGAAGCTTC GAGACCTGGA GGACTCACTG GCCCGTGAGC GGGACACCAG CCGGCGGCTG CTGGCGGAAA AGGAGCGGGA GATGGCCGAG ATGCGGGCAA GGATGCAGCA GCAGCTGGAC GAGTACCAGG AGCTTCTGGA CATCAAGCTG GCCCTGGACA TGGAGATCCA CGCCTACCGC AAGCTCTTGG AGGGCGAGGA | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model |
9.23
|
9.24
|
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| First Order Markov Model |
9.50
|
8.43
|
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| Weight Matrix Model |
11.25
|
9.65
|
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr1:156135860/156135861 |
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| Mutation |
chr1:156135890 |
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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, 2). Maximum entropy and the first-order Markov and weight matrix models were computed as described (3).
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.
- Senapathy, P., Shapiro, M.B. and Harris, N.L. (1990) Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project. Methods Enzymol., 183, 252-278.
- Yeo, G. and Burge, C.B. (2004) Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J. Comput. Biol., 11, 377-394.