TYW1B

tRNA-yW synthesizing protein 1 homolog B, the group of Radical S-adenosylmethionine domain containing

Basic information

Region (hg38): 7:72558744-72828200

Links

ENSG00000277149 ∙ NCBI:441250 ∙ ∙ HGNC:33908 ∙ Uniprot:Q6NUM6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TYW1B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TYW1B gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			37	1		38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	2	0

Variants in TYW1B

This is a list of pathogenic ClinVar variants found in the TYW1B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-72616734-G-A		not specified	Uncertain significance (Dec 06, 2024)
7-72616755-G-T		not specified	Uncertain significance (Dec 14, 2022)
7-72713625-T-C		not specified	Uncertain significance (Jan 09, 2025)
7-72713628-C-T		not specified	Uncertain significance (Nov 15, 2024)
7-72713738-A-G		not specified	Uncertain significance (Dec 26, 2023)
7-72713754-C-T		not specified	Uncertain significance (Dec 24, 2024)
7-72744592-G-A		not specified	Uncertain significance (Aug 02, 2021)
7-72777436-C-T		not specified	Uncertain significance (Nov 07, 2024)
7-72777481-C-T		not specified	Likely benign (Dec 28, 2022)
7-72777491-T-C		not specified	Uncertain significance (Dec 21, 2023)
7-72777495-G-C		not specified	Uncertain significance (May 04, 2022)
7-72777523-T-C		not specified	Uncertain significance (Dec 25, 2024)
7-72802441-C-T		not specified	Uncertain significance (May 12, 2024)
7-72807092-C-G		not specified	Uncertain significance (Aug 20, 2024)
7-72807104-A-C		not specified	Uncertain significance (Aug 28, 2024)
7-72807136-T-C		not specified	Uncertain significance (Dec 31, 2024)
7-72807185-T-C		not specified	Uncertain significance (Apr 15, 2024)
7-72807214-G-A		not specified	Uncertain significance (Sep 15, 2021)
7-72807217-A-G		not specified	Uncertain significance (Nov 23, 2021)
7-72807235-G-T		not specified	Uncertain significance (Jan 27, 2025)
7-72807247-G-C		not specified	Uncertain significance (Sep 11, 2024)
7-72807253-A-G		not specified	Uncertain significance (Apr 12, 2024)
7-72807275-C-T		not specified	Uncertain significance (Aug 02, 2021)
7-72807313-T-C		not specified	Uncertain significance (Dec 07, 2024)
7-72807317-C-T		not specified	Uncertain significance (Jul 12, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3'-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the condensation of N- methylguanine with 2 carbon atoms from pyruvate to form the tricyclic 4-demethylwyosine, an intermediate in wybutosine biosynthesis (By similarity). {ECO:0000250}.

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

Mouse Genome Informatics

• Gene name: Tyw1

Gene ontology

• Biological process: tRNA processing;oxidation-reduction process
• Molecular function: FMN binding;metal ion binding;4 iron, 4 sulfur cluster binding;tRNA-4-demethylwyosine synthase activity