Variant detail
mut_id 10 · c.287_288del · p.His96Profs*42
Evidence at a glance
0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity
Summary
Deletion Deletion Residue 96 AlphaMissense key H96P
HGVS
c.287_288del
Protein change
p.His96Profs*42
GRCh38 coordinate
133424435
Location
exon 3
Domain
Metalloprotease
Gene
ADAMTS13
External links
References
NEPHRO-ZEBRA-a neonate with severe jaundice, persistent thrombocytopenia & recurrent acute kidney injury later in childhood: Joining the dots!
Amino-acid property change
Residue substitution
H → P at 96
AlphaMissense score
0.8616
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
postive → neutral
Polarity
polar → nonpolar
Size
large → medium
Residue type
aromatic/basic → Unknown
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.2 → -1.6
Molecular weight
155.2 → 115.1
Original residue details
H
· histidine
code: His
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: aromatic/basic
code: His
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: aromatic/basic
Variant residue details
P
· proline
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
type:
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
type:
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 96 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.
Patient summary
No linked patients found for this variant.
Variant fields
mut_syn_HGVS
c.287_288del
cdna_numb_HGVS
287
cdna_numb_legacy
287
nt_change
Deletion
n_bp
2
nuc_numb
287
g_numb
g16
aa_numb_HGVS
96
aa_numb_legacy
96
aa_first
His
aa_last
Pro
aa_syn
p.His96Profs*42
coordinate_GRCh38
133424435
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
7
Patients linked by mut_id
No linked patients found.