TRMU (O75648) variants and mutations
TRMU (also known as O75648) is a human protein-coding gene encoding a mitochondrial tRNA-specific 2-thiouridylase 1 protein. A mitochondrial tRNA-modifying enzyme that adds sulfur to wobble-position uridines in several mitochondrial tRNAs. This modification supports accurate mitochondrial protein synthesis, and TRMU variants are associated with aminoglycoside-related deafness and transient infantile liver failure. This analysis covers 801 TRMU variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminog, and deafness, aminoglycoside-induced. Example TRMU variants include M1?, M1K, and M1R.
Variant analysis overview
- Gene: TRMU
- Protein: O75648
- UniProt accession: O75648
- Organism: Homo sapiens
- Variants analyzed: 801
- Variant scope: all variants
- Completed: 2026-06-04
Variant and mutation evidence
- Variant composition: 607 unspecified-consequence records; 106 missense variants; 63 synonymous variants; 20 frameshift variants; 1 in-frame insertions; 2 in-frame deletions; 1 stop-gained variants; 1 splice-region variants
- Prediction scores: 781 variants have prediction scores (98% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminog, deafness, aminoglycoside-induced, neurodegenerative disease, genetic disorder, Sjogren syndrome, mitochondrial disease, mitochondrial myopathy with reversible cytochrome C oxidase deficiency, Mitochondrial non-syndromic sensorineural deafness, Leigh syndrome, pregnancy disorder, Dupuytren Contracture.
Protein structure and variant hotspots
- Protein features: 3 binding sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, PharmGKB, MaveDB, LitVar.
Notable TRMU variants
Examples include M1?, M1K, M1R, M1T, Q2*, Q2E, Q2H, Q2R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV10879
- M1K (p.Met1Lys), rs118203992, ClinGen CA114914, ClinVar RCV000001357, ESM-1b 0.00, AlphaMissense 0.19, Pathogenic, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- M1R (p.Met1Arg), rs118203992, ClinGen CA323417, ClinVar RCV000198888, ClinVar RCV005031733, ESM-1b 0.00, AlphaMissense 0.15, Pathogenic/Likely pathogenic, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- M1T (p.Met1Thr), rs118203992, ClinGen CA10603573, ClinVar RCV000402876, ESM-1b 0.00, AlphaMissense 0.27, Pathogenic/Likely pathogenic, not provided
- Q2* (p.Gln2Ter), rs1464059546, ClinGen CA411938814, ClinVar RCV001890520, ClinVar RCV004571516, CADD 39.00, Pathogenic
- Q2E (p.Gln2Glu), TOPMed rs1464059546, REVEL 0.03, ESM-1b 0.00, Pathogenic
- Q2H (p.Gln2His), ExAC rs758055404, gnomAD rs758055404, REVEL 0.10, ESM-1b 0.00, Likely benign
- Q2R (p.Gln2Arg), ExAC rs750081134, gnomAD rs750081134, REVEL 0.11, ESM-1b 0.00
- Q2K (p.Gln2Lys), gnomAD 22-46335768-C-A, REVEL 0.06, ESM-1b 0.00
- Q2P (p.Gln2Pro), gnomAD 22-46335769-A-C, REVEL 0.11, ESM-1b 0.00
- Q2L (p.Gln2Leu), gnomAD 22-46335769-A-T, REVEL 0.14, ESM-1b 0.00
- Q2Q (p.Gln2Gln), rs758055404, gnomAD 22-46335770-G-A, CADD 6.99
- A3T (p.Ala3Thr), 1000Genomes rs562701324, ExAC rs562701324, gnomAD rs562701324, REVEL 0.08, ESM-1b 0.00
- A3V (p.Ala3Val), gnomAD rs1265502615, REVEL 0.10, ESM-1b 0.36
- A3S (p.Ala3Ser), gnomAD 22-46335771-G-T, REVEL 0.13, ESM-1b 0.00
- A3D (p.Ala3Asp), gnomAD 22-46335772-C-A, REVEL 0.10, ESM-1b 1.00
- A3A (p.Ala3Ala), rs75417986, gnomAD 22-46335773-C-T, CADD 8.42
- L4S (p.Leu4Ser), rs1353951169, ClinGen CA411938852, ClinVar RCV003408543, gnomAD rs1353951169, REVEL 0.08, ESM-1b 1.00, Uncertain significance, TRMU-related disorder
- L4V (p.Leu4Val), rs114302881, ClinGen CA291390, cosmic curated COSV10733, ClinVar RCV000125610, REVEL 0.06, ESM-1b 0.00, Benign, not specified; not provided; Acute infantile liver failure due to synthesis defe
- L4W (p.Leu4Trp), gnomAD rs1353951169, REVEL 0.15, ESM-1b 1.00, Uncertain significance
- L4L (p.Leu4Leu), gnomAD 22-46335774-T-C, CADD 8.67
- L4M (p.Leu4Met), gnomAD 22-46335774-T-A, REVEL 0.04, ESM-1b 0.68
- L4F (p.Leu4Phe), gnomAD 22-46335776-G-T, REVEL 0.11, ESM-1b 0.97
- R5P (p.Arg5Pro), rs568649964, ClinGen CA10291901, ClinVar RCV002786811, 1000Genomes rs568649964, REVEL 0.77, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- R5Q (p.Arg5Gln), cosmic curated COSV51990, 1000Genomes rs568649964, ExAC rs568649964, TOPMed rs568649964, REVEL 0.50, ESM-1b 1.00, Uncertain significance
- R5W (p.Arg5Trp), TOPMed rs2077953982, REVEL 0.66, ESM-1b 1.00
- R5G (p.Arg5Gly), gnomAD 22-46335777-C-G, REVEL 0.54, ESM-1b 1.00
- R5R (p.Arg5Arg), gnomAD 22-46335777-C-A, CADD 13.50
- R5L (p.Arg5Leu), gnomAD 22-46335778-G-T, REVEL 0.75, ESM-1b 1.00
- H6D (p.His6Asp), cosmic curated COSV51990, REVEL 0.26, ESM-1b 1.00
- H6N (p.His6Asn), ExAC rs748699705, gnomAD rs748699705, REVEL 0.13, ESM-1b 1.00
- H6Q (p.His6Gln), 1000Genomes rs527315924, ExAC rs527315924, TOPMed rs527315924, gnomAD rs527315924, REVEL 0.14, ESM-1b 1.00, Uncertain significance
- H6R (p.His6Arg), rs999326883, ClinGen CA325155200, ClinVar RCV002261647, TOPMed rs999326883, REVEL 0.10, ESM-1b 0.00, Uncertain significance, not provided
- H6Y (p.His6Tyr), gnomAD 22-46335780-C-T, REVEL 0.32, ESM-1b 1.00
- H6H (p.His6His), rs527315924, gnomAD 22-46335782-C-T, CADD 13.50
- V7A (p.Val7Ala), ExAC rs749389507, TOPMed rs749389507, gnomAD rs749389507, REVEL 0.86, ESM-1b 1.00, Uncertain significance, TRMU-related disorder
- V7F (p.Val7Phe), ExAC rs777781494, TOPMed rs777781494, gnomAD rs777781494, REVEL 0.88, ESM-1b 1.00, Uncertain significance, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- V7I (p.Val7Ile), cosmic curated COSV10586, REVEL 0.49, ESM-1b 1.00
- V7L (p.Val7Leu), ExAC rs777781494, TOPMed rs777781494, gnomAD rs777781494, REVEL 0.80, ESM-1b 1.00
- V7V (p.Val7Val), rs547049690, gnomAD 22-46335785-C-A, CADD 15.00
- V8L (p.Val8Leu), ExAC rs774656347, TOPMed rs774656347, gnomAD rs774656347, REVEL 0.31, ESM-1b 1.00
- V8M (p.Val8Met), ExAC rs774656347, TOPMed rs774656347, gnomAD rs774656347, REVEL 0.48, ESM-1b 1.00
- V8A (p.Val8Ala), gnomAD 22-46335787-T-C, REVEL 0.32, ESM-1b 0.00
- V8E (p.Val8Glu), gnomAD 22-46335787-T-A, REVEL 0.76, ESM-1b 1.00
- V8V (p.Val8Val), gnomAD 22-46335788-G-A, CADD 14.20
- C9* (p.Cys9Ter), rs1297282365, ClinGen CA411938951, ClinVar RCV003577020, ClinVar RCV005931557, CADD 40.00, Pathogenic
- C9S (p.Cys9Ser), ExAC rs760507725, REVEL 0.72, ESM-1b 1.00
- C9Y (p.Cys9Tyr), ExAC rs760507725, REVEL 0.77, ESM-1b 1.00
- C9G (p.Cys9Gly), gnomAD 22-46335789-T-G, REVEL 0.80, ESM-1b 1.00
- C9R (p.Cys9Arg), gnomAD 22-46335789-T-C, REVEL 0.84, ESM-1b 1.00
- C9F (p.Cys9Phe), gnomAD 22-46335790-G-T, REVEL 0.78, ESM-1b 1.00
- C9C (p.Cys9Cys), rs1297282365, gnomAD 22-46335791-C-T, CADD 13.90
- A10S (p.Ala10Ser), rs11090865, ClinGen CA114910, cosmic curated COSV51990, ClinVar RCV000001353, REVEL 0.62, ESM-1b 1.00, Benign/Likely benign, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- A10T (p.Ala10Thr), 1000Genomes rs11090865, ESP rs11090865, ExAC rs11090865, TOPMed rs11090865, REVEL 0.75, ESM-1b 1.00, Benign, acts as a disease modifier in patients with aminoglycoside-induced deafness and
- A10D (p.Ala10Asp), gnomAD 22-46335793-C-A, REVEL 0.69, ESM-1b 1.00
- A10G (p.Ala10Gly), gnomAD 22-46335793-C-G, REVEL 0.24, ESM-1b 0.00
- A10V (p.Ala10Val), gnomAD 22-46335793-C-T, REVEL 0.66, ESM-1b 1.00
- A10A (p.Ala10Ala), rs776692221, gnomAD 22-46335794-C-T, CADD 15.70
- L11M (p.Leu11Met), cosmic curated COSV51990, REVEL 0.10, ESM-1b 0.00
- L11P (p.Leu11Pro), TOPMed rs1297485958, gnomAD rs1297485958, REVEL 0.88, ESM-1b 1.00, Likely benign, not provided
- L11R (p.Leu11Arg), TOPMed rs1297485958, gnomAD rs1297485958, REVEL 0.86, ESM-1b 1.00
- L11V (p.Leu11Val), Ensembl rs2077955138, REVEL 0.16, ESM-1b 0.00
- L11L (p.Leu11Leu), rs2147846193, gnomAD 22-46335797-G-A, CADD 12.70
- S12C (p.Ser12Cys), ExAC rs761904190, REVEL 0.94, ESM-1b 1.00
- S12F (p.Ser12Phe), ExAC rs761904190, REVEL 0.95, ESM-1b 1.00
- S12P (p.Ser12Pro), gnomAD 22-46335798-T-C, REVEL 0.95, ESM-1b 1.00
- S12T (p.Ser12Thr), gnomAD 22-46335798-T-A, REVEL 0.91, ESM-1b 1.00
- S12Y (p.Ser12Tyr), gnomAD 22-46335799-C-A, REVEL 0.95, ESM-1b 1.00
- S12S (p.Ser12Ser), gnomAD 22-46335800-C-A, CADD 7.94
- G13C (p.Gly13Cys), gnomAD 22-46335801-G-T, REVEL 0.96, ESM-1b 1.00
- G13S (p.Gly13Ser), gnomAD 22-46335801-G-A, REVEL 0.96, ESM-1b 0.46
- G13R (p.Gly13Arg), gnomAD 22-46335801-G-C, REVEL 0.96, ESM-1b 1.00
- G13D (p.Gly13Asp), gnomAD 22-46335802-G-A, REVEL 0.98, ESM-1b 1.00
- G13V (p.Gly13Val), gnomAD 22-46335802-G-T, REVEL 0.98, ESM-1b 1.00
- G13G (p.Gly13Gly), rs762544346, gnomAD 22-46335803-C-T, CADD 15.00
- G14D (p.Gly14Asp), TOPMed rs1344063229, REVEL 0.97, ESM-1b 1.00
- G14S (p.Gly14Ser), rs751248771, ClinGen CA10291915, ClinVar RCV000673121, ClinVar RCV001756140, REVEL 0.98, ESM-1b 1.00, Uncertain significance, Aminoglycoside-induced deafness; Acute infantile liver failure due to synthesis
- G14C (p.Gly14Cys), gnomAD 22-46335804-G-T, REVEL 0.99, ESM-1b 1.00
- G14V (p.Gly14Val), gnomAD 22-46335805-G-T, REVEL 0.98, ESM-1b 1.00
- G14G (p.Gly14Gly), rs755309787, gnomAD 22-46335806-C-G, CADD 7.02
- V15G (p.Val15Gly), gnomAD rs1264204669, REVEL 0.95, ESM-1b 1.00
- V15M (p.Val15Met), TOPMed rs1205866905, gnomAD rs1205866905, REVEL 0.85, ESM-1b 1.00
- V15L (p.Val15Leu), gnomAD 22-46335807-G-T, REVEL 0.86, ESM-1b 1.00
- V15A (p.Val15Ala), gnomAD 22-46335808-T-C, REVEL 0.91, ESM-1b 1.00
- V15V (p.Val15Val), gnomAD 22-46335809-G-T, CADD 14.10
- D16A (p.Asp16Ala), Ensembl rs2077956268, REVEL 0.99, ESM-1b 1.00
- D16E (p.Asp16Glu), gnomAD rs1447716712, REVEL 0.95, ESM-1b 1.00, Likely benign
- D16H (p.Asp16His), TOPMed rs2077956193, REVEL 0.99, ESM-1b 1.00
- D16N (p.Asp16Asn), gnomAD 22-46335810-G-A, REVEL 0.96, ESM-1b 1.00
- D16Y (p.Asp16Tyr), gnomAD 22-46335810-G-T, REVEL 0.99, ESM-1b 1.00
- D16G (p.Asp16Gly), gnomAD 22-46335811-A-G, REVEL 0.99, ESM-1b 1.00
- D16D (p.Asp16Asp), rs1447716712, gnomAD 22-46335812-C-T, CADD 15.10
- S17G (p.Ser17Gly), TOPMed rs1388348321, gnomAD rs1388348321, REVEL 0.94, ESM-1b 1.00, Uncertain significance, not provided; Inborn genetic diseases
- S17R (p.Ser17Arg), TOPMed rs2077956537, REVEL 0.97, ESM-1b 1.00, Uncertain significance
- S17N (p.Ser17Asn), gnomAD 22-46335814-G-A, REVEL 0.86, ESM-1b 1.00
- S17I (p.Ser17Ile), gnomAD 22-46335814-G-T, REVEL 0.95, ESM-1b 1.00
- S17S (p.Ser17Ser), gnomAD 22-46335815-C-T, CADD 15.50
- A18T (p.Ala18Thr), gnomAD 22-46335816-G-A, REVEL 0.55, ESM-1b 1.00
- A18S (p.Ala18Ser), gnomAD 22-46335816-G-T, REVEL 0.15, ESM-1b 0.00
- A18V (p.Ala18Val), gnomAD 22-46335817-C-T, REVEL 0.69, ESM-1b 1.00
- A18D (p.Ala18Asp), gnomAD 22-46335817-C-A, REVEL 0.77, ESM-1b 1.00
- A18A (p.Ala18Ala), rs1304330534, gnomAD 22-46335818-C-T, CADD 7.80
- V19G (p.Val19Gly), Ensembl rs1346469614, REVEL 0.86, ESM-1b 1.00
- V19L (p.Val19Leu), TOPMed rs940581889, REVEL 0.63, ESM-1b 1.00
- V19M (p.Val19Met), gnomAD 22-46335819-G-A, REVEL 0.74, ESM-1b 1.00
- V19E (p.Val19Glu), gnomAD 22-46335820-T-A, REVEL 0.88, ESM-1b 1.00
- V19A (p.Val19Ala), gnomAD 22-46335820-T-C, REVEL 0.76, ESM-1b 1.00
- V19V (p.Val19Val), gnomAD 22-46335821-G-T, CADD 13.20
- A20G (p.Ala20Gly), TOPMed rs1329491402, gnomAD rs1329491402, REVEL 0.62, ESM-1b 1.00
- A20S (p.Ala20Ser), gnomAD 22-46335822-G-T, REVEL 0.28, ESM-1b 0.00
- A20T (p.Ala20Thr), gnomAD 22-46335822-G-A, REVEL 0.35, ESM-1b 0.00
- A20V (p.Ala20Val), gnomAD 22-46335823-C-T, REVEL 0.37, ESM-1b 1.00
- A20D (p.Ala20Asp), gnomAD 22-46335823-C-A, REVEL 0.69, ESM-1b 1.00
- A20A (p.Ala20Ala), gnomAD 22-46335824-C-G, CADD 12.20
- A21V (p.Ala21Val), TOPMed rs1303499860, gnomAD rs1303499860, REVEL 0.81, ESM-1b 1.00
- A21R (p.Ala21Arg), gnomAD 22-46335822-GC-G, CADD 32.00
- A21S (p.Ala21Ser), gnomAD 22-46335825-G-T, REVEL 0.81, ESM-1b 1.00
- A21T (p.Ala21Thr), gnomAD 22-46335825-G-A, REVEL 0.86, ESM-1b 1.00
- A21E (p.Ala21Glu), gnomAD 22-46335826-C-A, REVEL 0.90, ESM-1b 1.00
- A21A (p.Ala21Ala), gnomAD 22-46335827-G-A, CADD 14.60
- L22V (p.Leu22Val), gnomAD 22-46335828-C-G, REVEL 0.14, ESM-1b 1.00
- L22M (p.Leu22Met), gnomAD 22-46335828-C-A, REVEL 0.30, ESM-1b 1.00
- L22L (p.Leu22Leu), gnomAD 22-46335830-G-A, CADD 12.70
- L23L (p.Leu23Leu), rs2147846414, gnomAD 22-46335831-C-T, CADD 15.10
- L23V (p.Leu23Val), gnomAD 22-46335831-C-G, REVEL 0.50, ESM-1b 1.00
- L23M (p.Leu23Met), gnomAD 22-46335831-C-A, REVEL 0.54, ESM-1b 1.00
- L23P (p.Leu23Pro), gnomAD 22-46335832-T-C, REVEL 0.81, ESM-1b 1.00
- L24* (p.Leu24Ter), rs2077957264, gnomAD 22-46335832-TG-T, CADD 33.00
- L24L (p.Leu24Leu), gnomAD 22-46335834-C-T, CADD 13.40
- L24V (p.Leu24Val), gnomAD 22-46335834-C-G, REVEL 0.64, ESM-1b 1.00
- L24M (p.Leu24Met), gnomAD 22-46335834-C-A, REVEL 0.58, ESM-1b 1.00
- L24Q (p.Leu24Gln), gnomAD 22-46335835-T-A, REVEL 0.90, ESM-1b 1.00
- R25K (p.Arg25Lys), rs1569057032, ClinGen CA411939181, ClinVar RCV000729340, ClinVar RCV003420292, REVEL 0.11, ESM-1b 0.00, Uncertain significance, not provided; TRMU-related disorder
- R25S (p.Arg25Ser), rs2272938, ClinGen CA302704, ClinVar RCV000173460, ClinVar RCV000349987, REVEL 0.11, ESM-1b 1.00, Benign, not specified; not provided; Acute infantile liver failure due to synthesis defe
- R25M (p.Arg25Met), gnomAD 22-46335838-G-T, REVEL 0.27, ESM-1b 1.00
- R25R (p.Arg25Arg), rs2272938, gnomAD 22-46335839-G-A, CADD 15.50
- R26G (p.Arg26Gly), ExAC rs778355454, gnomAD rs778355454, REVEL 0.34, ESM-1b 1.00
- R26W (p.Arg26Trp), ExAC rs778355454, gnomAD rs778355454, REVEL 0.40, ESM-1b 1.00
- R26R (p.Arg26Arg), gnomAD 22-46335840-C-A, CADD 15.40
- R26Q (p.Arg26Gln), gnomAD 22-46335841-G-A, REVEL 0.20, ESM-1b 0.87
- R26L (p.Arg26Leu), gnomAD 22-46335841-G-T, REVEL 0.38, ESM-1b 1.00
- R27G (p.Arg27Gly), TOPMed rs1167225464, REVEL 0.57, ESM-1b 1.00, Likely benign
- R27K (p.Arg27Lys), cosmic curated COSV10962, REVEL 0.35, ESM-1b 1.00
- R27R (p.Arg27Arg), rs1167225464, gnomAD 22-46335843-A-C, CADD 16.30
- R27I (p.Arg27Ile), gnomAD 22-46335844-G-T, REVEL 0.73, ESM-1b 1.00
- R27S (p.Arg27Ser), gnomAD 22-46335845-A-T, REVEL 0.63, ESM-1b 1.00
- G28A (p.Gly28Ala), Ensembl rs965139259, ESM-1b 1.00, AlphaMissense 0.71, Uncertain significance, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- G28L (p.Gly28Leu), rs2077957664, gnomAD 22-46335841-GGA-G, CADD 29.80
- G28C (p.Gly28Cys), gnomAD 22-46335846-G-T, REVEL 0.88, ESM-1b 1.00
- G28S (p.Gly28Ser), gnomAD 22-46335846-G-A, REVEL 0.84, ESM-1b 1.00
- G28D (p.Gly28Asp), gnomAD 22-46337779-G-A, REVEL 0.88, ESM-1b 1.00
- Y29* (p.Tyr29Ter), rs769668643, ClinGen CA411939807, ClinVar RCV001866829, ClinVar RCV002506887, Pathogenic
- Y29C (p.Tyr29Cys), gnomAD 22-46337782-A-G, REVEL 0.82, ESM-1b 1.00
- Y29Y (p.Tyr29Tyr), rs769668643, gnomAD 22-46337783-C-T, CADD 9.30
- Q30R (p.Gln30Arg), gnomAD 22-46337785-A-G, REVEL 0.18, ESM-1b 0.50
- V31M (p.Val31Met), gnomAD 22-46337787-G-A, REVEL 0.76, ESM-1b 1.00
- T32N (p.Thr32Asn), gnomAD 22-46337789-G-GA, CADD 32.00
- T32T (p.Thr32Thr), rs2147852935, gnomAD 22-46337792-A-G, CADD 7.43
- G33A (p.Gly33Ala), gnomAD rs2078017116, REVEL 0.67, ESM-1b 1.00, Uncertain significance
- G33E (p.Gly33Glu), rs2078017116, ClinGen CA411939867, NCI-TCGA Cosmic COSV9932, ClinVar RCV003352665, REVEL 0.82, ESM-1b 1.00, Uncertain significance, Inborn genetic diseases
- G33R (p.Gly33Arg), NCI-TCGA TCGA novel, ESM-1b 1.00, AlphaMissense 0.98, Variant assessed as somatic; moderate impact.
- G33V (p.Gly33Val), cosmic curated COSV99324, REVEL 0.78, ESM-1b 1.00
- G33W (p.Gly33Trp), gnomAD 22-46337793-G-T, REVEL 0.82, ESM-1b 1.00
- G33G (p.Gly33Gly), rs1569060096, gnomAD 22-46337795-G-A, CADD 9.34
- V34L (p.Val34Leu), TOPMed rs1199688790, gnomAD rs1199688790, REVEL 0.25, ESM-1b 0.00
- V34M (p.Val34Met), TOPMed rs1199688790, gnomAD rs1199688790, REVEL 0.68, ESM-1b 1.00
- p.Val34 Phe35insLeu, gnomAD 22-46337796-G-GTG, CADD 22.60
- V34V (p.Val34Val), rs1426898716, gnomAD 22-46337798-G-A, CADD 7.71
- F35Y (p.Phe35Tyr), rs762738569, gnomAD 22-46337791-CAG-C, CADD 33.00
- F35F (p.Phe35Phe), rs772997268, gnomAD 22-46337801-T-C, CADD 6.02
- M36I (p.Met36Ile), NCI-TCGA Cosmic COSV5199, cosmic curated COSV51990, NCI-TCGA Cosmic COSV9932, cosmic curated COSV99324, ESM-1b 1.00, AlphaMissense 0.91, Variant assessed as somatic; moderate impact.
- M36V (p.Met36Val), Ensembl rs2078017548, REVEL 0.93, ESM-1b 1.00
- K37N (p.Lys37Asn), NCI-TCGA TCGA novel, REVEL 0.14, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- K37T (p.Lys37Thr), gnomAD rs1459375695, REVEL 0.52, ESM-1b 1.00
- K37R (p.Lys37Arg), gnomAD 22-46337806-A-G, REVEL 0.14, ESM-1b 0.00
- N38K (p.Asn38Lys), NCI-TCGA Cosmic COSV9932, cosmic curated COSV99324, REVEL 0.71, ESM-1b 1.00, Variant assessed as somatic; moderate impact.
- W39* (p.Trp39Ter), TOPMed rs1347374960, gnomAD rs1347374960, CADD 39.00, Pathogenic
- D40H (p.Asp40His), rs863224240, ClinGen CA321425, ClinVar RCV000196998, gnomAD rs863224240, REVEL 0.79, ESM-1b 1.00, Uncertain significance, not provided
- D40V (p.Asp40Val), TOPMed rs1301184606, gnomAD rs1301184606, REVEL 0.81, ESM-1b 1.00, Uncertain significance, not provided
- S41S (p.Ser41Ser), rs2078018011, gnomAD 22-46337819-A-G, CADD 0.48
Public TRMU analysis runs
- TRMU analysis run — TRMU (801 variants) — completed 2026-06-04