| Regulating Pair |
| Introduced Variation |
Mutation (P429L) of SLC6A5 |
Protein Info
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| Induced Change |
Glycine concentration: increase |
Metabo Info
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| Summary |
Introduced Variation
Induced Change
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| Full List of Experiment(s) Validating This Regulating Pair |
| Details of Experiment for Validating This Pair |
[1] |
| Method |
Quantifying the change of glycine concentration after SLC6A5 mutation (P429L) through 3H-labeled amino acids kit detection. |
| Disease Status |
Healthy individual |
| Organ/Tissue/Cell Line |
HEK293 cells (Human embryonic kidney cells) |
Kidney |
| Subcellular Location |
Membrane (Cell membrane) |
| Tested Species |
Species: Homo sapiens (Click to Show/Hide the Complete Species Lineage)
Kingdom: Metazoa
Phylum: Chordata
Class: Mammalia
Order: Primates
Family: Hominidae
Genus: Homo
Species: Homo sapiens
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| Details |
It is reported that mutation (P429L) of SLC6A5 leads to the increase of glycine levels compared with control group in HEK293 cells. |
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| References |
| 1 |
The P429L loss of function mutation of the human glycine transporter 2 associated with hyperekplexia. Eur J Neurosci. 2019 Dec;50(12):3906-3920.
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