DBASS5 - Record Details
| Gene |
MCCB (Ensembl) |
Location of Aberrant 5' Splice Site | Exon |
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| Phenotype |
3-methylcrotonyl-CoA carboxylase deficiency (OMIM) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
-65
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| Mutation | E14+93A>G | Change in the Reading Frame |
+2
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| Reference(s) |
Baumgartner, M.R., Almashanu, S., Suormala, T., Obie, C., Cole, R.N., Packman, S., Baumgartner, E.R., Valle, D. (2001) The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J. Clin. Invest., 107, 495-504. Pub Med Article # 11181649 |
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| Nucleotide Sequence[a] | GATTTATGGT TGGTAGAGAG TATGAAGCTG AAGGAATTGC CAAGGATGGT GCCAAGATGG TGGCCGCTGT GGCCTGTGCC CAAGTGCCTA AG/(A>G)TA ACCCTCATCA TTGGGGGCTC CTATGGAGCC GGAAACTATG GGATGTGTGG CAGAGCATAT AGgtaggtgt catgattttc tctgaaacaa agaaacatgc ttcaagtata aaatacatgg tcagtttatt tcaggtgtat ttgaaatata gaatgccatt cccagatctc aatcaattat accgtaattt gtatcatttg gaggggtgaa atgaaattta atgccaaagg tgttatttgg aagaaatcta caatgggagt caagaaatac ttgaaatggc tgataatgaa | ||||
| Percent Utilisation | 100 | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model [1] |
N.D.
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N.D.
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| Maximum Dependence Decomposition Model [2] |
N.D.
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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 |
chr5:71649188/71649189 |
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| Mutation |
chr5:71649189 |
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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.