DBASS3 - Record Details
| Gene |
PKP2 (Ensembl) |
Location of Aberrant 3' Splice Site | Exon |
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| Phenotype |
Arrhytmogenic right ventricular cardiomyopathy (OMIM) |
Distance between Authentic and Aberrant 3' Splice Site (nt) |
+17
|
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| Mutation | IVS12-1G>C | Change in the Reading Frame |
+2
|
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| Reference(s) |
Gerull et al. (2004) Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat. Genet., 36, 1162-1164. Pub Med Article # 15489853 |
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| Nucleotide Sequence[a] | caccatgttg gccaggatgg tctgacctcg tgatctaccc acctcagcct cccaaaagtg ctgggattac aggcgtgagc caccccacct ggcctataaa ctatttattt attagcactg tgctagtggt ttaaaaagaa aacaaaaaca gatatggtcc ccgccttgca g/agcttgct gcctaattgt ctggtcaccg agtggcctga cttcatggat ggctgctgcg gagtagcagt tgaggagcga agaggtctta cagaacaccc acaggccgca tccagaagcc tcactcattc tccctgatct cagaatgtcc ttttcttttc a(g>c)CTAT GCCTCCAACA AAG/CAAGTA AAGCTGCTTC CGTCCTTCTG TATTCTCTGT GGGCACACAC GGAACTGCAT CATGCCTACA AGAAGgtaag aacatgaaca aggaatgtgt catagttaac agagccaggt aataatggcc cacttgactt gaccctggga agaaatcgct aaaaaactgc attttcttgt gtgccagttt tgttaccttt cacgtttctg tttgcttatt | ||||
| Terminal Exon? | No | ||||
| Splice Site Strength[b] | Authentic Site |
Aberrant Site |
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| Maximum Entropy Model |
8.56
|
0.39
|
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| First Order Markov Model |
10.55
|
0.97
|
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| Weight Matrix Model |
11.51
|
-0.16
|
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| Genomic Co-ordinates (hg38) | |||||
| Aberrant Splice Site |
chr12:32792714/32792715 chr12:32792891/32792892 |
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| Mutation |
chr12:32792732 |
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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.