DBASS5 - Record Details
| Gene |
HBA2 (Ensembl) |
Location of Aberrant 5' Splice Site | Exon |
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| Phenotype |
a-thalassemia (OMIM) |
Distance between Authentic and Aberrant 5' Splice Site (nt) |
-49
|
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| Mutation | c.95+1G>A | Change in the Reading Frame |
+1
|
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| Reference(s) |
Qadah T, Finlayson J, Ghassemifar R. In vitro characterization of the alpha-thalassemia point mutation HBA2:c.95+1G>A [IVS-I-1(G>A) (alpha2)]. Hemoglobin. 2012;36(1):38-46 Pub Med Article # 21967524 |
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| Nucleotide Sequence[a] | ACTCTTCTGG TCCCCACAGA CTCAGAGAGA ACCCACCATG GTGCTGTCTC CTGCCGACAA GACCAACGTC AAGGCCGCCT GGG/GTAAGG TCGGCGCGCA CGCTGGCGAG TATGGTGCGG AGGCCCTGGA GAG(g>a)tg aggctccctc ccctgctccg acccgggctc ctcgcccgcc cggacccaca ggccaccctc aaccgtcctg gccccggacc caaaccccac ccctcactct gcttctcccc gcagGATGTT CCTGTCCTTC CCCACCACCA AGACCTACTT CCCGCACTTC GACCTGAGCC ACGGCTCTGC CCAGGTTAAG GGCCACGGCA AGAAGGTGGC CGACGCGCTG ACCAACGCCG TGGCGCACGT GGACGACATG CCCAACGCGC TGTCCGCCCT GAGCGACCTG CACGCGCACA | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model [1] |
8.41
|
8.05
|
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| Maximum Dependence Decomposition Model [2] |
11.78
|
11.38
|
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| First Order Markov Model [1] |
9.20
|
7.08
|
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| Weight Matrix Model [1] |
9.56
|
8.66
|
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr16:172958/172959 |
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| Mutation |
chr16:173008 |
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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.