Variant detail
mut_id 26 · c.568C>T · p.Arg190Trp
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 Uncertain signiificance Residue 190 AlphaMissense key R190W
HGVS
c.568C>T
Protein change
p.Arg190Trp
rsID
rs782650307
ClinVar ID
3357501
GRCh38 coordinate
133426227
Location
exon 6
gnomAD AF
0.00001054
Domain
Metalloprotease
Gene
ADAMTS13
References
No references linked via ref_id / all_references / reference.
Amino-acid property change
Residue substitution
R → W at 190
AlphaMissense score
0.1364
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophobic
Charge
postive → neutral
Polarity
polar → nonpolar
Size
large → large (unchanged)
Residue type
basic → aromatic
Typical protein position
surface → buried
Hydropathy index
-4.5 → -0.9
Molecular weight
174.2 → 204.2
Original residue details
R
· arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
W
· tryptophan
code: Trp
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aromatic
code: Trp
hydro: hydrophobic
charge: neutral
polarity: nonpolar
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 190 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.568C>T
cdna_numb_HGVS
568
cdna_numb_legacy
568
nt_change
C>T
n_bp
1
nuc_numb
568
g_numb
g16
aa_numb_HGVS
190
aa_numb_legacy
190
aa_first
Arg
aa_last
Trp
aa_syn
p.Arg190Trp
codon_first
CGG
codon_last
TGG
coordinate_GRCh38
133426227
gnomAD_AC
17
gnomAD_AN
1613554
gnomAD_AF
0.00001054
clinvar_id
3357501
clinvar_classification
Uncertain signiificance
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
332
Patients linked by mut_id
No linked patients found.