Difference between revisions of "List of known Hex A mutations"
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'''Table 2''': List of known ''HEXA'' mutations. It is adapted from the curated UniProtKB/Swissprot entry [http://www.uniprot.org/uniprot/P06865 P06865]. Further mutations will be added over the course of the practical. |
'''Table 2''': List of known ''HEXA'' mutations. It is adapted from the curated UniProtKB/Swissprot entry [http://www.uniprot.org/uniprot/P06865 P06865]. Further mutations will be added over the course of the practical. |
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+ | <!-- To add: ----------------------------------- |
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+ | Neutrals from here: |
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+ | Mules, E. H., Hayflick, S., Miller, C. S., Reynolds, L. W., & Thomas, G. H. (1992). Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. American journal of human genetics, 50(4), 834-41. |
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+ | Deleted? and stop from here: --> |
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+ | <!--|- |
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+ | ! A137! |
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+ | | TSD |
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+ | | [Akli1991] |
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+ | |- |
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+ | ! A178C |
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+ | | TSD |
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+ | | [Akli1991] |
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+ | |- |
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+ | ! S210F |
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+ | | TSD |
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+ | | [Akli1991] |
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+ | |- |
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+ | ! A393! |
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+ | | TSD |
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+ | | [Akli1991] |
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+ | |- |
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+ | ! A504C |
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+ | | TSD |
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+ | | [Akli1991]--> |
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+ | <!-- |
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+ | |||
+ | also check here http://www.hexdb.mcgill.ca/?Topic=HEXAdb&Page=Sequence&Section=Full |
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+ | |||
+ | noone lists neutral ones? (dbsnp does) |
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+ | neutrals extra after the TSD causing ones, but in same table |
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+ | ------------------------------------------ |
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+ | --> |
Latest revision as of 02:18, 24 April 2012
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.