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P724L

Category 3/4 — Most DruggableConflictingLumenal · predictedσ-1 candidateEditorial
ProlineLeucine at position 724 · C-terminal lumenal domain (653-869) · WFS1 (Wolframin)

Proline → Leucine at position 724 in lumenal domain. ClinVar Conflicting. AlphaMissense 0.906, ΔΔG -0.24. Same position as P724S (Atlas card adjacent) — proline-removal pair.

Interactive 3D Structure

Wild-type reference
Wild-type P724 — hydrogen bond to I727
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DynaMut2 mutant · P724L
Mutant L724 — hydrophobic contact to F726 lost
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Bond changes · DynaMut2 interaction analysis

0 lost1 gained6 preserved
Interaction typeWild-type partnerMutant partnerStatus
Hydrogen bondI727I727Preserved
Hydrogen bondG728G728Preserved
Polar contactF726F726Preserved
Polar contactI727I727Preserved
Polar contactG728G728Preserved
Van der WaalsF726Gained
HydrophobicF726F726Preserved

Lost / gained / preserved interatomic contacts at the variant residue, from the DynaMut2 (Arpeggio) interaction analysis of the wild-type and energy-minimized mutant structures.

Computational Predictions

DynaMut2 ΔΔG
-0.24kcal/mol
Destabilising — mild
AlphaMissense
0.906
LPath
AlphaFold pLDDT
89
model confidence
Schema
Cat 3/4
Category 3/4 — Most Druggable

Clinical Evidence

ClinVar classificationConflicting classifications of pathogenicity
Review statuscriteria provided, conflicting classifications
Associated conditions(no specific conditions catalogued)
InheritanceNot specified.
Population frequency (gnomAD v4)Ultra-rare · AF 0.0029%
cDNA changec.2171C>T
ClinVar accessionVCV000004509
Last evaluated2024/11/05 00:00

Observed at very low frequency in gnomAD.

Structural Context

Position 724 same neighbors as P724S: LEU723 (2.5 Å — partner of L723P), PHE725 (2.5 Å), PHE726 (4.6 Å), ILE727 (5.0 Å).

P724L is the second substitution at 724 (with P724S). Where P724S added polarity into hydrophobic environment, P724L is conservative hydrophobic-to-hydrophobic. Both lose the backbone kink. Combined with L723P, three Atlas variants converge on the 723-724 Leu-Pro motif.

|ΔΔG| 0.24 + AlphaMissense 0.906 confirm severe consequence.

Amino-acid chemistry
Proline (P) → Leucine (L) — rigid helix-breaking replaced by branched aliphatic. Removes backbone constraint.
Position in the protein
C-terminal lumenal domain · position 724 (pLDDT 89). Same as P724S.

Druggability Assessment

Category 3/4 — Most Druggable. |ΔΔG| = 0.24 — fold survives. AlphaMissense 0.906 confirms severe consequence.

Mechanism: loss of wild-type Leu-Pro backbone geometry. Therapeutic: same target as L723P, P724S.

Why this matters

P724L + P724S + L723P all converge on the 723-724 backbone microregion — three convergent variant targets.
Therapeutic Strategy Handoff · prediction

Feed this card to Wolfram Intelligence

Download the P724L PDF below and upload it to Wolfram Intelligence to generate therapeutic-strategy proposals — guanidinium mimetics, sigma-1 agonist docking, NAC thiol-capping. NAC is already on the bench-testing list.

Download P724L PDF card ↓Strategies are AI-generated predictions, not validated therapeutics.

UniProt Domain Annotation

Chain1890 · Wolframin
Topological domain653869 · Lumenal
Natural variant724724 · in WFS1; dbSNP:rs28937890