Variant detail
mut_id 377 · p.Asp1240Tyr
Evidence at a glance
0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity
Summary
Point missense_variant Residue 1240 AlphaMissense key D1240Y
Protein change
p.Asp1240Tyr
Domain
CUB 1
Gene
ADAMTS13
References
Characterization of autopsy findings including multivisceral glomeruloid vascular bodies in hereditary thrombotic thrombocytopenic purpura with two new variants in ADAMTS13 gene
Amino-acid property change
Residue substitution
D → Y at 1240
AlphaMissense score
0.3292
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophobic
Charge
negative → neutral
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
acidic → aromatic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -1.3
Molecular weight
133.1 → 181.2
Original residue details
D
· aspartic acid
code: Asp
hydro: hydrophilic
charge: negative
polarity: polar
size: medium
type: acidic
code: Asp
hydro: hydrophilic
charge: negative
polarity: polar
size: medium
type: acidic
Variant residue details
Y
· tyrosine
code: Tyr
hydro: hydrophobic
charge: neutral
polarity: polar
size: large
type: aromatic
code: Tyr
hydro: hydrophobic
charge: neutral
polarity: polar
size: large
type: aromatic
Interactive AlphaFold structure
Interactive local 3D view of the AlphaFold Q76LX8 ADAMTS13 structure.
Drag to rotate, shift-drag to move, and use the mouse wheel to zoom in and out. The default view shows the full ADAMTS13 structure, with residue 1240 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: CUB 1
Domain colours match the homepage domain viewer.
Patient summary
No linked patients found for this variant.
Variant fields
g_numb
g16
aa_numb_HGVS
1240
aa_numb_legacy
1240
aa_first
Asp
aa_last
Tyr
aa_syn
p.Asp1240Tyr
g_id
g16
g_name
ADAMTS13
ref_id
317
Patients linked by mut_id
No linked patients found.