MTTP p.Ser861fs
c.2580_2581dup · VCV4817990
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
abetalipoproteinemia
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (18 of 18) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 8.5 | GERP 1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- MTTP
- Protein
- p.Ser861fs
- Coding
- c.2580_2581dup
- MANE Select
- NM_001386140
- Type
- Duplication
- Location
- chr4:99622741 (GRCh38)
- Gene constraint
- LOEUF 0.672 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 86.73 · 2 PDB
- Residue 861
- a β-strand
Disease context
abetalipoproteinemia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Abetalipoproteinemia (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Childhood, Infancy
- Prevalence
- <1 / 1 000 000 (Worldwide)
Similar variants
- MTTP p.Asn140fs Pathogenic ★★ same condition
- MTTP p.Ile547fs Pathogenic/Likely pathogenic ★★ same condition
- MTTP p.Glu443Ter Likely pathogenic ★ same condition
- MTTP p.Leu26fs Likely pathogenic ★ same condition
- MTTP p.Leu79fs Likely pathogenic ★ same condition
- MTTP p.Ser861= Likely benign ★ same residue
- MTTP c.1067+1G>C Likely pathogenic ★★ same condition
- MTTP c.1769+2T>C Pathogenic/Likely 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/mttp-p-ser861fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown