|
rs119482082
|
|
C |
0.730 |
CausalMutation |
CLINVAR |
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.
|
26681808 |
2016 |
|
rs119482082
|
|
C |
0.730 |
CausalMutation |
CLINVAR |
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
|
22302274 |
2012 |
|
rs119482082
|
|
|
0.730 |
GeneticVariation |
BEFREE |
In mice bearing a transgene expressing the C133W SPTLC1 mutant linked to HSAN1, a 10% L-serine–enriched diet reduced dSL levels.
|
22045570 |
2011 |
|
rs119482082
|
|
C |
0.730 |
CausalMutation |
CLINVAR |
Rather, the presence of two newly identified, potentially deleterious deoxysphingoid bases in the tgSPTLC1(C133W), but not in the wild-type, double-transgenic tgSPTLC1(WT + C133W) or SPTLC1(+/-) mice, suggests that the HSAN1 mutations alter amino acid selectivity of the SPT enzyme such that palmitate is condensed with alanine and glycine, in addition to serine.
|
19923297 |
2009 |
|
rs119482082
|
|
C |
0.730 |
CausalMutation |
CLINVAR |
Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.
|
18018475 |
2007 |
|
rs119482082
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.
|
18018475 |
2007 |
|
rs119482082
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We report the neuropathological findings in a 93-year-old woman with a disease of unusually late onset, who was part of a large HSN I kindred and in whom genetic analysis confirmed an SPTLC1 T399G mutation.
|
16271825 |
2006 |
|
rs119482082
|
|
C |
0.730 |
CausalMutation |
CLINVAR |
Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).
|
16364956 |
2006 |
|
rs119482082
|
|
C |
0.730 |
CausalMutation |
CLINVAR |
Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy.
|
16210380 |
2005 |
|
rs119482082
|
|
C |
0.730 |
CausalMutation |
CLINVAR |
SPTLC1 is mutated in hereditary sensory neuropathy, type 1.
|
11242106 |
2001 |
|
rs119482082
|
|
C |
0.730 |
CausalMutation |
CLINVAR |
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.
|
11242114 |
2001 |