PUS3 Chromosome 11
Pseudouridine synthase 3
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What This Gene Does
The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Gene Info
Gene Group
Pseudouridine synthases
Locus Type
gene with protein product
Location
11q24.2
Ensembl
ENSG00000110060
Associated Conditions (9)
Inborn genetic diseases
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Heart
malformation of
Ankle flexion contracture
Aplasia/Hypoplasia of the cerebellum
Anencephaly
Polyhydramnios
PUS3-related disorder
Key Variants
RS139252433
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200689030
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201138088
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS534570905
Conflicting classifications of pathogenicity
Health Risk
RS1023270270
Likely pathogenic
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Health Risk
RS1208593429
Likely pathogenic
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Health Risk
RS752052349
Likely pathogenic
Heart, malformation of, Ankle flexion contracture
Health Risk
RS753229591
Likely pathogenic
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Health Risk
RS756816369
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2497048802
Pathogenic
Health Risk
RS758320488
Pathogenic
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Health Risk
RS774005569
Pathogenic
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139252433 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200689030 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201138088 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS534570905 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1023270270 | Health Risk | Likely pathogenic | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome |
| RS1208593429 | Health Risk | Likely pathogenic | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome |
| RS752052349 | Health Risk | Likely pathogenic | Heart, malformation of, Ankle flexion contracture |
| RS753229591 | Health Risk | Likely pathogenic | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome |
| RS756816369 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2497048802 | Health Risk | Pathogenic | — |
| RS758320488 | Health Risk | Pathogenic | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome |
| RS774005569 | Health Risk | Pathogenic | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome |
| RS1944570170 | Health Risk | Pathogenic/Likely pathogenic | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome |
| RS374443634 | Health Risk | Pathogenic/Likely pathogenic | Heart, malformation of, Anencephaly |
| RS761792490 | Health Risk | Pathogenic/Likely pathogenic | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome, Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome |