DBASS5 - Record Details
| Gene |
LMNA (Ensembl) |
Location of Aberrant 5' Splice Site | Exon |
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| Phenotype |
Hutchinson-Gilford progeria (OMIM) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
-150
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| Mutation | IVS11+1G>A | Change in the Reading Frame |
0
|
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| Reference(s) |
Moulson, C.L., Fong, L.G., Gardner, J.M., Farber, E.A., Go, G., Passariello, A., Grange, D.K., Young, S.G., Miner, J.H. (2007) Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. Hum. Mutat., in press. Pub Med Article # 17469202 |
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| Nucleotide Sequence[a] | cttccctctc ctcctccggg cccctagcct cccaaacccc cattgcccgc tggctccttg ggcacagaac cacaccttcc tgcctggcgg ctgggagcct gcaggagcct ggagcctggt tgggcctgag tggtcagtcc cagactcgcc gtcccgcctg agccttgtct cccttcccag GGCTCCCACT GCAGCAGCTC GGGGGACCCC GCTGAGTACA ACCTGCGCTC GCGCACCGTG CTGTGCGGGA CCTGCGGGCA GCCTGCCGAC AAGGCATCTG CCAGCGGCTC AGGAGCCCAG /GTGGGCGGA CCCATCTCCT CTGGCTCTTC TGCCTCCAGT GTCACGGTCA CTCGCAGCTA CCGCAGTGTG GGGGGCAGTG GGGGTGGCAG CTTCGGGGAC AATCTGGTCA CCCGCTCCTA CCTCCTGGGC AACTCCAGCC CCCGAACCCA G(g>a)tgag ttgtctctgc tttgtctcca aatcctgcag gcgggtccct ggtcatcgag gggtaggacg aggtggcctt gcagggggga gagcctgcct tctcttccgc agcccggggg agtgggagcc tcctccccac agcctgagtc ctagacagcc cacctctgca tcctgcccct cttgtctgag ccccagactg gagggcaggg gcagggctgg agtgtgaggg atgggggaga tgctacctcc cttctagggg ccaggggagg gagggtctgg gtccaggccc tgctgctcac | ||||
| Percent Utilisation | 100 | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model [1] |
N.D.
|
N.D.
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| Maximum Dependence Decomposition Model [2] |
N.D.
|
N.D.
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| First Order Markov Model [1] |
N.D.
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N.D.
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| Weight Matrix Model [1] |
N.D.
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N.D.
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr1:156138607/156138608 |
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| Mutation |
chr1:156138758 |
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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.