NM_018006.5(TRMU):c.680G>C (p.Arg227Thr) AND Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001250083.2
Allele description [Variation Report for NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)]
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr)
Condition(s)
-
PMC Links for Nucleotide (Select 356689997) (1)
PMC
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Chain 1v, Crystal structure of the wild-type Thermus thermophilus 70S ribosome i...
Chain 1v, Crystal structure of the wild-type Thermus thermophilus 70S ribosome in complex with spectinomycin, mRNA, deacylated A- and E-site tRNAphe, and deacylated P-site tRNAmet at 2.60A resolutiongi|2784091303|pdb|8UVR|1vNucleotide
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Chain 1v, Crystal structure of the wild-type Thermus thermophilus 70S ribosome i...
Chain 1v, Crystal structure of the wild-type Thermus thermophilus 70S ribosome in complex with berberine analog of chloramphenicol CAM-BER, mRNA, deacylated A- and E-site tRNAphe, and deacylated P-site tRNAmet at 2.80A resolutiongi|2784092570|pdb|9B00|1vNucleotide
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Chain 1v, Crystal structure of the wild-type Thermus thermophilus 70S ribosome i...
Chain 1v, Crystal structure of the wild-type Thermus thermophilus 70S ribosome in complex with macrolone MCX-91, mRNA, aminoacylated A-site Phe-tRNAphe, aminoacylated P-site fMet-tRNAmet, and deacylated E-site tRNAphe at 2.55A resolutiongi|2784091796|pdb|8VTV|1vNucleotide
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Chain z, Cryo-EM structure of an E. coli rotated ribosome bound with RF3-GDPCP a...
Chain z, Cryo-EM structure of an E. coli rotated ribosome bound with RF3-GDPCP and p/E-tRNAPhe (Composite state II-B)gi|2771038639|pdb|8FZI|zNucleotide
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Last Updated: Sep 29, 2024