Difference between revisions of "List of known Hex A mutations"
From Bioinformatikpedia
(Created page with " <!-- <figtable id="tbl:tsd_hexa_mutations"> --> {| class="wikitable" |+ '''Table 2''': List of known ''HEXA'' mutations. It is adapted from the curated UniProtKB/Swissprot entry…") |
|||
Line 1: | Line 1: | ||
− | |||
<!-- <figtable id="tbl:tsd_hexa_mutations"> --> |
<!-- <figtable id="tbl:tsd_hexa_mutations"> --> |
||
+ | {| class="wikitable" style=" width: 70%; border-collapse: collapse; border-style: solid; border-width:0px; border-color: #000" |
||
− | {| class="wikitable" |
||
+ | |||
− | |+ '''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. |
||
|- |
|- |
||
− | ! scope="col"| Mutation |
+ | ! style="text-align:left; border-style: solid; border-width: 0 0 1px 0" scope="col"| Mutation |
− | ! scope="col"| Effect |
+ | ! style="text-align:left; border-style: solid; border-width: 0 0 1px 0" scope="col"| Effect |
− | ! scope="col"| dbSNP |
+ | ! style="text-align:left; border-style: solid; border-width: 0 0 1px 0" scope="col"| dbSNP |
− | ! scope="col"| Comment |
+ | ! style="text-align:left; border-style: solid; border-width: 0 0 1px 0" scope="col"| Comment |
|- |
|- |
||
| <font face="monospace" size=4>P25S</font> |
| <font face="monospace" size=4>P25S</font> |
||
Line 264: | Line 263: | ||
| |
| |
||
|- |
|- |
||
− | | <font face="monospace" size=4>R504H</font> |
+ | |style="border-style: solid; border-width: 0 0 1px 0" | <font face="monospace" size=4>R504H</font> |
− | | TSD (juvenile) |
+ | |style="border-style: solid; border-width: 0 0 1px 0" | TSD (juvenile) |
+ | | style="border-style: solid; border-width: 0 0 1px 0" | |
||
− | | |
||
− | | inhibited subunit dissociation |
+ | |style="border-style: solid; border-width: 0 0 1px 0" | inhibited subunit dissociation |
|} |
|} |
||
+ | |||
− | Table 2 shows a list of some known mutations in the human HEXA gene. Further sources which might contain additional mutations can be found at the end of this section under cross references. |
||
+ | '''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. |
Revision as of 00:06, 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.