HMSD |
An intronic SNP (rs9945924) causes pronounced skipping of exon 2 by weakening the 5′ splice site. |
Generates a novel minor histocompatibility antigen, which affects the immune response and could serve as a potential target for immunotherapy56. |
ERAP2 |
A SNP (rs2248374) residing within the canonical 5′ splice site of exon 10 triggers activation of a downstream cryptic splice site, leading to mRNA nonsense-mediated decay and a significant reduction in the steady-state mRNA level of ERAP218, 57. |
Primary lymphocytes homozygous for the G allele express less MHC Class I at the B cell surface, suggesting that this alternative splicing event affects MHC antigen presentation18, 51. |
OAS1 |
A SNP (rs10774671) at the 3′ splice site of exon 7 abolishes splice site activity, resulting in the usage of an internal 3′ splice site. |
Produces a protein isoform with reduced enzymatic activity58. Affects the response to interferon (IFN) therapy in hepatitis C patients59, and influences susceptibility to multiple sclerosis65. |
SCN1A |
An intronic SNP (rs3812718) modulates the alternative splicing of exon 5. |
Influences the dose response to antiepileptic drugs60. |
IRF5 |
An intronic SNP (rs2004640) generates a consensus GT 5′ splice site of the alternative first exon 1B, producing an alternative transcript isoform initiated at exon 1B. |
Associated with increased risk of systemic lupus erythematosus63, 64. |
CD45 (PTPRC) |
An exonic SNP (rs17612648) within exon 4 disrupts an exonic splicing silencer, leading to increased inclusion of exon 4. |
Associated with multiple sclerosis61. |
LDLR |
An exonic SNP (rs688) promotes skipping of its exon 12. |
Associated with total and LDL-cholesterol levels in females especially in pre-menopausal women67. |