List of known Hex A mutations

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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.