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TYW3

Synonyms
C1orf171
External resources
Summary
Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TYW3 is the human homolog of a yeast gene essential for yW synthesis (Noma and Suzuki, 2006).

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
10
Likely pathogenic
0
VUS
1,093
Likely benign
4
Benign
0

Patient Phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on TYW3 gene are displayed below. The following symptoms were found in patients with a variant in TYW3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
33.3%
Abnormality of the cardiovascular system
33.3%
Abnormality of the nervous system
33.3%
Abnormality of blood and blood forming tissues
22.2%
Abnormality of the eye
22.2%
Abnormality of the immune system
22.2%
Abnormality of the musculoskeletal system
22.2%
Growth abnormality
22.2%
Abnormality of metabolism homeostasis
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the integument
11.1%
Abnormality of the respiratory system
11.1%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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