Summary of biochemical and clinical characteristics of the most prevalent MYH9 mutations
. | R1165C . | R1933Stop . | E1841K . | D1424N . |
|---|---|---|---|---|
| Heptad position | d | Truncation removes 28aa | e | c |
| Paracrystal morphology | Amorphous chains | Amorphous chains; aberrent, small assemblies | Small, abnormal paracrystals with frayed ends | Paracrystals, but periodicity and width defects |
| Altered solubility versus wild type | Slight | No | Slight | No |
| In vitro dominant activity | Yes | Yes | Yes | Yes |
| Disruption of coiled-coil structure | Yes | No | Yes | No |
| Altered melting temperature | Yes | No | No | No |
| Thrombocytopenia* | Yes | Yes | Yes | Yes |
| Hearing loss, no. affected families/total no. families* | 2/5 | 0/13 | 0/20 | 6/12 |
| Nephritis, no. affected families/total no. families* | 2/5 | 1/13 | 5/20 | 5/12 |
| Leukocyte inclusions, no. affected families/total no. families* | 5/5 | 13/13 | 19/20 | 10/12 |
. | R1165C . | R1933Stop . | E1841K . | D1424N . |
|---|---|---|---|---|
| Heptad position | d | Truncation removes 28aa | e | c |
| Paracrystal morphology | Amorphous chains | Amorphous chains; aberrent, small assemblies | Small, abnormal paracrystals with frayed ends | Paracrystals, but periodicity and width defects |
| Altered solubility versus wild type | Slight | No | Slight | No |
| In vitro dominant activity | Yes | Yes | Yes | Yes |
| Disruption of coiled-coil structure | Yes | No | Yes | No |
| Altered melting temperature | Yes | No | No | No |
| Thrombocytopenia* | Yes | Yes | Yes | Yes |
| Hearing loss, no. affected families/total no. families* | 2/5 | 0/13 | 0/20 | 6/12 |
| Nephritis, no. affected families/total no. families* | 2/5 | 1/13 | 5/20 | 5/12 |
| Leukocyte inclusions, no. affected families/total no. families* | 5/5 | 13/13 | 19/20 | 10/12 |
“Affected families” indicates families with any individual having the characteristic.
In these rows, yes indicates always present.