MMUT p.Pro615fs
c.1842dup · VCV4734056
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 11 of 13 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.5, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- MMUT
- Protein
- p.Pro615fs
- Coding
- c.1842dup
- MANE Select
- NM_000255
- Type
- Duplication
- Location
- chr6:49440319 (GRCh38)
- Gene constraint
- LOEUF 1.18 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.72 · 6 PDB
- Residue 615
- a UniProt-annotated variant site (in mamm; mut0; affects proper folding; reduced strongly protein level); a UniProt-annotated variant site (in mamm; mut0); a UniProt-annotated variant site (in mamm; mut0; affects proper folding; reduced strongly protein level; loss of methylmalonyl-coa mutase activity); a UniProt-annotated variant site (in mamm; mut-); the b12-binding domain
Similar variants
- MMUT p.Pro615Leu Pathogenic ★★ same residue
- MMUT p.Pro615Thr Pathogenic ★★ same residue
- MMUT p.Pro615Arg Uncertain significance ⚠ same residue
- MMUT p.Asn341fs Pathogenic ★★ same type
- MMUT p.His252fs Pathogenic ★★ same type
- MMUT p.Leu281fs Pathogenic/Likely pathogenic ★★ same type
- MMUT p.Leu285fs Pathogenic/Likely pathogenic ★★ same type
- MMUT p.Leu394fs Pathogenic ★★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/mmut-p-pro615fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown