5′ splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24029
Abstract: In the human genome, most 5′ splice sites (~99%) employ the canonical GT dinucleotide whereas a small minority (~1%) use the noncanonical GC dinucleotide. The functionality and pathogenicity of 5′ splice site GT>GC (+2T>C) variants… read more here.
Keywords: splice; site variants; terms functionality; splice site ... See more keywords
All reported non-canonical splice site variants in GLA cause aberrant splicing.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical and experimental nephrology"
DOI: 10.2139/ssrn.4282750
Abstract: BACKGROUND Fabry disease is an X-linked lysosomal storage disorder caused by insufficient α-galactosidase A (GLA) activity resulting from variants in the GLA gene, which leads to glycosphingolipid accumulation and life-threatening, multi-organ complications. Approximately 50 variants… read more here.
Keywords: canonical splice; variants gla; splice; non canonical ... See more keywords
The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those Predicted
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DOI: 10.2174/1389202921666200210141701
Abstract: Introduction: 5' splice site GT>GC or +2T>C variants have been frequently reported to cause human genetic disease and are routinely scored as pathogenic splicing mutations. However, we have recently demonstrated that such variants in human… read more here.
Keywords: experimentally obtained; site variants; type transcripts; impact ... See more keywords
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232113343
Abstract: Non-canonical splice site variants are increasingly recognized as a relevant cause of the USH2A-associated diseases, non-syndromic autosomal recessive retinitis pigmentosa and Usher syndrome type 2. Many non-canonical splice site variants have been reported in public… read more here.
Keywords: canonical splice; splice; non canonical; splice site ... See more keywords