Tissue-specific splicing has previously been demonstrated in CDKN2A (Robertson and Jones, 1999), and it is conceivable that the effect of any of the p14ARF splice site mutations on the protein at ...

For the splice site at the beginning of an intron -- known as its 5' ["five-prime"] splice site, Krainer says, "we know that at the first and second [DNA-letter] position, mutations have a very ...

When gene splicing goes awry, a wide variety of diseases can result. In a brief paper in the journal Bioinformatics, Brown University researchers describe a new, freely available Web-based program ...

For the splice site at the beginning of an intron--known as its 5' ["five-prime"] splice site, Krainer says, "we know that at the first and second [DNA-letter] position, mutations have a very ...

In the normal PARK7 gene (top), the U1 small nuclear ribonucleoprotein (snRNP) base pairs with the splice donor site at the end of exon 3. The G>C mutation at the end of exon 3 disrupts this ...

Sequences that regulate splicing often occur close to splice sites, and every possible "word" of DNA letters (e.g. AAA) has a signature distribution around the splice sites. But a mutation creates ...

Mutations c.1681+1G→A, c.2637+2T→G, and p.A1201V (c.3602C→T) (blue shading) alter the splicing process at sites of modification of the nascent pre–messenger RNA transcript (splice-site ...

A single splice site mutation in human-specific ARHGAP11B causes basal progenitor amplification, Science Advances (2016). DOI: 10.1126/sciadv.1601941. Abstract ...

The presence of this mutation raised the possibility of missplicing of the myostatin precursor mRNA in the patient, since the +5 position at the splice donor site is a common location for splice ...

The majority of FD patients have a point mutation in the 20th exon the 5′ splice donor site. It's a T > C transition that weakens the intronic portion of the 5′ splice site, causing exon 20 to ...