MMAB p.Arg191fs
c.571del · VCV4816443
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
methylmalonic aciduria, cblB type
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 7 of 9 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- MMAB
- Protein
- p.Arg191fs
- Coding
- c.571del
- MANE Select
- NM_052845
- Type
- Deletion
- Location
- chr12:109561053 (GRCh38)
- Gene constraint
- LOEUF 0.874 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 82.39 · 6 PDB
- Residue 191
- a UniProt-annotated variant site (in macb); an α-helix; a binding site
Disease context
methylmalonic aciduria, cblB type — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Vitamin B12-responsive methylmalonic acidemia (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Childhood
Similar variants
- MMAB p.Arg191dup Likely pathogenic ★★ same residue
- MMAB p.Arg191Gln Pathogenic ★★ ⚠ same residue
- MMAB p.Arg191Trp Pathogenic ★★ same residue
- MMAB p.Arg191Gly Likely pathogenic ★ same residue
- MMAB p.Arg191Pro Likely pathogenic ★ same residue
- MMAB p.Arg191= Likely benign ★ same residue
- MMAB p.Ala192fs Pathogenic/Likely pathogenic ★★ same condition
- MMAB p.Asp123fs Pathogenic ★★ same condition
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/mmab-p-arg191fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown