List of known Hex A mutations
From Bioinformatikpedia
| Mutation | Effect | dbSNP | Comment |
|---|---|---|---|
| P25S | TSD (late infantile) | ||
| L39R | TSD (infantile) | ||
| L127F | TSD | ||
| L127R | TSD (infantile) | ||
| R166G | TSD (late infantile) | ||
| R170Q | TSD (infantile) | inactive or unstable protein | |
| R170W | TSD (infantile) | ||
| R178C | TSD (infantile) | inactive protein | |
| R178H | TSD (infantile) | inactive protein | |
| R178L | TSD (infantile) | rs28941770 | |
| Y180H | TSD | rs28941771 | |
| V192L | TSD (infantile) | ||
| N196S | TSD | ||
| K197T | TSD | ||
| V200M | TSD | rs1800429 | |
| H204R | TSD (infantile) | ||
| S210F | TSD (infantile) | ||
| F211S | TSD (infantile) | ||
| S226F | TSD | ||
| R247W | TSD | in HEXA pseudodeficiency | |
| R249W | TSD | in HEXA pseudodeficiency | |
| G250D | TSD (juvenile) | ||
| G250S | TSD | ||
| R252H | TSD | ||
| R252L | TSD | ||
| D258H | TSD (infantile) | ||
| G269D | TSD | ||
| G269S | TSD | late onset; inhibited subunit dissociation | |
| S279P | TSD (late infantile) | ||
| S293I | TSD | rs1054374 | |
| N295S | TSD | ||
| M301R | TSD (infantile) | ||
| 304del | TSD (infantile) | Moroccan Jewish. | |
| D314V | TSD | ||
| 320del | TSD (late infantile) | ||
| I335F | TSD | ||
| 347_352del | TSD | ||
| V391M | TSD | mild; associated with spinal muscular atrophy | |
| N399D | TSD | rs1800430 | |
| W420C | TSD (infantile) | inactive protein | |
| I436V | TSD | rs1800431 | |
| G454S | TSD (infantile) | ||
| G455R | TSD (late infantile) | ||
| C458Y | TSD (infantile) | ||
| W474C | TSD | subacute | |
| E482K | TSD (infantile) | ||
| L484Q | TSD (infantile) | ||
| W485R | TSD (infantile) | ||
| R499C | TSD (infantile) | ||
| R499H | TSD (juvenile) | ||
| R504C | TSD (infantile) | rs28942071 | |
| R504H | TSD (juvenile) | inhibited subunit dissociation |
Table 2: List of known HEXA mutations. It is adapted from the curated UniProtKB/Swissprot entry P06865. Further mutations will be added over the course of the practical.
