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- LH1 GLN345END - View
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- Rohrbach, M., A. Vandersteen, U. Yis, G. Serdaroglu, E. Ataman, M. Chopra, S. Garcia, K. Jones, A. Kariminejad, M. Kraenzlin, C. Marcelis, M. Baumgartner and C. Giunta (2011). "Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation." Orphanet J Rare Dis 6: 46 - DOI - PubMed - Mutations
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| SiMPLOD ID | Isoenzyme | Mutation | Disease phenotype | CLINVAR | Reference papers | Viewer |
|---|---|---|---|---|---|---|
| SiMPLOD1-88 | Lysyl Hydroxylase 1 (human) | LH1 GLN345END (PLOD1) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Rohrbach et al., 2011 | View |
| SiMPLOD1-326 | Lysyl Hydroxylase 1 (human) | LH1 delta551-585 (PLOD1 c.1651-2A>G) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Pathogenic |
NA | Rohrbach et al., 2011 Pousi et al., 1998 |
View |
| SiMPLOD1-107 | Lysyl Hydroxylase 1 (human) | LH1 GLY678ARG (PLOD1 c.2032G>A) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Conflicting interpretations of pathogenicity |
14366 | Ha et al., 1994 Yeowell et al., 2000 Rohrbach et al., 2011 Miller et al., 1979 Dembure et al., 1984 Dembure et al., 1987 |
View |
| SiMPLOD1-202 | Lysyl Hydroxylase 1 (human) | LH1 TRP419LEUFS (PLOD1) |
Kyphoscoliotic Ehlers-Danlos Syndrome (Type VIa) Uncertain significance |
NA | Rohrbach et al., 2011 |
View |
| SiMPLOD1-142 | Lysyl Hydroxylase 1 (human) | LH1 LEU085PRO (PLOD1 c.254T>C) |
Ehlers-Danlos syndrome, cardiovascular phenotype Likely benign |
NA | Rohrbach et al., 2011 |
View |
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