Prioritize a protein region for functional testing.
Position can support transcript crosswalking, recurrence review, construct design, and region-aware functional testing.
VARIANT LANDSCAPE
Protein position & recurrence
Read the connected-person position map, then distinguish exact recurrence from unrelated molecular situations.
OBSERVED COUNTS BY PROTEIN INTERVAL
Protein positions among connected people.
Each cell shows the number of people with a result in that interval. Color intensity uses one scale within each figure. Neither bands nor color establish mutation rate, enrichment, hotspots, severity, or prognosis.
Connected people — MANE protein positions52 connected people shown: 33 positioned LoF/truncating + 19 single-missense · NP_060959.2 / Q9NR48-2 axis · 500-aa bands
Predicted truncatingMissenseOne color scale across this figure
Scroll horizontally to review every protein interval.
| Molecular class | 1–500 | 501–1,000 | 1,001–1,500 | 1,501–2,000 | 2,001–2,500 | 2,501–2,964 |
|---|---|---|---|---|---|---|
| Predicted truncating | 1 | 6 | 11 | 6 | 8 | 1 |
| Missense | 5 | 7 | 3 | 1 | 1 | 2 |
| All people shown | 6 | 13 | 14 | 7 | 9 | 3 |
Predict residual function or a person's course.
Class and interval do not establish RNA fate, protein abundance, mechanism, phenotype attribution, treatment response, or prognosis.
RECURRENCE, RELATEDNESS & ADDITIONAL FINDINGS
4 molecular situations are shown separately.
The current group includes 2 repeated truncating alleles in unrelated pairs, 1 related-family cluster, 3 complex/mixed/in-frame results (two complex/mixed and one in-frame deletion), and 21 of 63 people with an additional finding recorded, including reported or unresolved findings.
Scroll horizontally to review every column.
| Structure | Count and unit | What it can show | What it does not show |
|---|---|---|---|
| Repeated truncating alleles in unrelated families | 2 repeated-allele pairs · 4 people | 2 exact truncating alleles each appear in an unrelated pair within the 52-person exact-allele group. | This does not establish prevalence, identical function, or a shared clinical course. |
| Familial structure | 5 related people in 1 family | Study segregation, penetrance, and within-family variability. | 5 related people do not represent 5 independent recurrence events. |
| Complex / mixed / in-frame architecture | 3 people: 2 complex/mixed + 1 in-frame deletion | Distinguish multiple ASH1L events from a simple in-frame deletion; assess phase and any additional finding separately. | These results do not form one molecular subtype. |
| Additional findings | 21 / 63 people with an additional finding recorded | Includes reported or unresolved genetic and clinical findings, VUS and carrier findings, each considered separately. Reviewed September 7, 2026. | This counts people, not confirmed additional diagnoses, causal explanations, or additional ASH1L cases. |
EXACT RECURRENCE
2 exact truncating alleles each appear in an unrelated pair.
The exact-allele group contains 52 people with one sequence-defined ASH1L result. A match requires the same ASH1L change, written against the same reference, in unrelated families. A shared residue, codon, consequence, or interval alone is not counted as the same allele.