Variant detail
mut_id 384 · c.3997C>T · p.Pro1333Ser
Evidence at a glance
0
Linked patients
0
Patient-variant records
0
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity
Summary
Point missense_variant Residue 1333 AlphaMissense key P1333S
HGVS
c.3997C>T
Protein change
p.Pro1333Ser
Location
exon 28
Domain
CUB 2
Gene
ADAMTS13
References
No references linked via ref_id / all_references / reference.
Amino-acid property change
Residue substitution
P → S at 1333
AlphaMissense score
0.4375
Uncertain
CSV class: Amb
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → polar
Size
medium → small
Residue type
Not available
Typical protein position
surface → surface (unchanged)
Hydropathy index
-1.6 → -0.8
Molecular weight
115.1 → 105.0
Original 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:
Variant residue details
S
· serine
code: Ser
hydro: hydrophilic
charge: neutral
polarity: polar
size: small
type:
code: Ser
hydro: hydrophilic
charge: neutral
polarity: polar
size: small
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 1333 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: CUB 2
Domain colours match the homepage domain viewer.
Patient summary
No linked patients found for this variant.
Variant fields
mut_syn_HGVS
c.3997C>T
cdna_numb_HGVS
3997
cdna_numb_legacy
3997
nt_change
C>T
n_bp
1
nuc_numb
3997
g_numb
g16
aa_numb_HGVS
1333
aa_numb_legacy
1333
aa_first
Pro
aa_last
Ser
aa_syn
p.Pro1333Ser
g_id
g16
g_name
ADAMTS13
ref_id
332
Patients linked by mut_id
No linked patients found.