MANBA p.Arg613fs
c.1836dup · rs2476757946 · VCV2703999
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 13 of 17 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.2 | GERP 1.6, phastCons 0.86 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- MANBA
- Protein
- p.Arg613fs
- Coding
- c.1836dup
- MANE Select
- NM_005908
- dbSNP
- rs2476757946
- Type
- Duplication
- Location
- chr4:102650569 (GRCh38)
- Gene constraint
- LOEUF 0.826 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 96.05
- Residue 613
- a UniProt-annotated variant site (in mansb; complete loss of enzyme activity)
Disease context
beta-mannosidosis — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Beta-mannosidosis (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Prevalence
- 1-9 / 1 000 000 (Europe)
Similar variants
- MANBA p.Arg613His Uncertain significance ★★ ⚠ same residue
- MANBA p.Arg613Leu Uncertain significance ★★ ⚠ same residue
- MANBA p.Arg613Cys Uncertain significance ★ ⚠ same residue
- MANBA p.Arg613= Likely benign ★ same residue
- MANBA p.Asp191_Trp192insTer Pathogenic ★★ same condition
- MANBA p.Ser726fs Pathogenic/Likely pathogenic ★★ same condition
- MANBA c.2416-20dup Benign/Likely benign ★★ same condition
- MANBA p.Gln261fs 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/manba-p-arg613fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown