Table 1.
SVA insertions and disease
| Gene | Insertion (kb) | HG19 | Full-length | Subfamily** | Associated disease | Genotype | Potential Mechanism | Progenitor | Note | SVA Sequence |
|---|---|---|---|---|---|---|---|---|---|---|
| HLA-A | 2 | No | Yes* | F1 | Leukemia | SVA/+ | Deletion | 3p21.31X | Founder Insertion (JPN) | AB291067, AB291066 |
| NF2 | 1.7 | Yes | Yes | D | Neurofibromatosis 2 | SVA/+ | Deletion | N/A | HG19 | |
| BTK | 0.25 | No | No | N/A | X-linked agammaglobulinemia (XLA) | SVA/Y | Exon skipping | N/A | Alu inserton at same site | Conley et al 2005 |
| α-spectrin | 0.63 | No | No | E | Heriditary elliptocytosis and pyropoikilocytosis | SVA/+ | Exon skipping | 3q25.1X | Inverted 3' transduction | dbRIPY |
| TAF1 | 2.6 | No | Yes | F | X-linked dystonia-parkinsonism (XDP) | SVA/Y | DNA methylation | N/A | Founder Insertion (PHI) | AB191243 |
| LDLRAP1 | 2.6 | No | Yes | E | Autosomal Recessive Hypercholesterolemia (ARH) | SVA/SVA | Reduced mRNA | N/A | Italian Ancestry | Wilhund et al 2002 |
| Fukutin | 3.1 | No | Yes | E | Fukuyama-type muscular dystrophy (FCMD) | SVA/SVA | Reduced mRNA | N/A | Founder Insertion (JPN) | AB185332 |
Published SVA insertions associated with disease. A full-length SVA insertion is defined as the presence of either the CCCTCT hexamer or MAST2 sequence.
*
Contains MAST2 sequence
**
SVA Subfamily Determined by Repeatmasker (http://www.repeatmasker.org) according Wang et al 2005 subfamily classification.
X
present in Human Genome (hg19) UCSC browser (http://genome.ucsc.edu/)