SEPSECS Chromosome 4
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
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What This Gene Does
The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third step in the process, the conversion of O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec).[provided by RefSeq, Mar 2011]
Associated Conditions (8)
Pontocerebellar hypoplasia type 2D
Pontoneocerebellar hypoplasia
SEPSECS-related disorder
Spastic ataxia
7 conditions
6 conditions
Inborn genetic diseases
Neurodevelopmental abnormality
Key Variants
RS146539065
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 2D, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2D
Health Risk
RS1728415390
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
Health Risk
RS200041461
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
Health Risk
RS368514215
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
Health Risk
RS374407543
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 2D, SEPSECS-related disorder, Pontocerebellar hypoplasia type 2D
Health Risk
RS587780457
Conflicting classifications of pathogenicity
Health Risk
RS61747281
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
Health Risk
RS747732980
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
Health Risk
RS757504141
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
Health Risk
RS773876739
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 2D, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2D
Health Risk
RS773969315
Conflicting classifications of pathogenicity
Spastic ataxia, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2D
Health Risk
RS777854893
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
Health Risk
All Variants (84)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2109034069 | Health Risk | Pathogenic | — |
| RS2109035661 | Health Risk | Pathogenic | — |
| RS2109039199 | Health Risk | Pathogenic | — |
| RS2474624136 | Health Risk | Pathogenic | — |
| RS2474624385 | Health Risk | Pathogenic | — |
| RS2474632246 | Health Risk | Pathogenic | — |
| RS2474632359 | Health Risk | Pathogenic | — |
| RS2474660058 | Health Risk | Pathogenic | — |
| RS2474660081 | Health Risk | Pathogenic | — |
| RS2474660169 | Health Risk | Pathogenic | — |
| RS2474660936 | Health Risk | Pathogenic | — |
| RS2474673178 | Health Risk | Pathogenic | — |
| RS2474678090 | Health Risk | Pathogenic | — |
| RS2474678156 | Health Risk | Pathogenic | — |
| RS2474680293 | Health Risk | Pathogenic | — |
| RS2474680377 | Health Risk | Pathogenic | — |
| RS2474680524 | Health Risk | Pathogenic | — |
| RS2474683044 | Health Risk | Pathogenic | — |
| RS2474687235 | Health Risk | Pathogenic | — |
| RS2474687418 | Health Risk | Pathogenic | — |
| RS2474687422 | Health Risk | Pathogenic | — |
| RS2474687748 | Health Risk | Pathogenic | — |
| RS267607036 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D |
| RS753121056 | Health Risk | Pathogenic | — |
| RS1309003036 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D |
| RS1712612053 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D |
| RS1712612585 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D |
| RS267607035 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 2D, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2D |
| RS745870736 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 2D, Inborn genetic diseases, Pontocerebellar hypoplasia type 2D |
| RS748528138 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental abnormality, Pontocerebellar hypoplasia type 2D, Pontoneocerebellar hypoplasia |
| RS761035878 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D |
| RS761072755 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D |
| RS776969714 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 2D, Inborn genetic diseases, Pontoneocerebellar hypoplasia |
| RS781277383 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D |