Variant detail
mut_id 275 · c.448T>C · p.Ser150Pro
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 150 AlphaMissense key S150P
HGVS
c.448T>C
Protein change
p.Ser150Pro
rsID
rs1386875680
GRCh38 coordinate
133425971
Location
exon 5
gnomAD AF
0.00000185
Domain
Metalloprotease
Gene
ADAMTS13
References
No references linked via ref_id / all_references / reference.
Amino-acid property change
Residue substitution
S → P at 150
AlphaMissense score
0.9481
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
small → medium
Residue type
Not available
Typical protein position
surface → surface (unchanged)
Hydropathy index
-0.8 → -1.6
Molecular weight
105.0 → 115.1
Original 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:
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 150 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.448T>C
cdna_numb_HGVS
448
cdna_numb_legacy
448
nt_change
T>C
n_bp
1
nuc_numb
448
g_numb
g16
aa_numb_HGVS
150
aa_numb_legacy
150
aa_first
Ser
aa_last
Pro
aa_syn
p.Ser150Pro
codon_first
TCC
codon_last
CCC
coordinate_GRCh38
133425971
gnomAD_AC
3
gnomAD_AN
1613748
gnomAD_AF
0.00000185
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
321
Patients linked by mut_id
No linked patients found.