Variant detail
mut_id 281 · c.581G>T · p.Gly194Val
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 significance Residue 194 AlphaMissense key G194V
HGVS
c.581G>T
Protein change
p.Gly194Val
rsID
rs1554785242
ClinVar ID
559578
GRCh38 coordinate
133426240
Location
exon 6
gnomAD AF
0.00000371
Domain
Metalloprotease
Gene
ADAMTS13
References
No references linked via ref_id / all_references / reference.
Amino-acid property change
Residue substitution
G → V at 194
AlphaMissense score
0.9440
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
small → medium
Residue type
aliphatic → aliphatic (unchanged)
Typical protein position
surface → buried
Hydropathy index
-0.4 → 4.2
Molecular weight
75.1 → 117.1
Original residue details
G
· glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic
Variant residue details
V
· valine
code: Val
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
type: aliphatic
code: Val
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
type: aliphatic
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 194 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.581G>T
cdna_numb_HGVS
581
cdna_numb_legacy
581
nt_change
G>T
n_bp
1
nuc_numb
581
g_numb
g16
aa_numb_HGVS
194
aa_numb_legacy
194
aa_first
Gly
aa_last
Val
aa_syn
p.Gly194Val
codon_first
GGC
codon_last
GTC
coordinate_GRCh38
133426240
gnomAD_AC
6
gnomAD_AN
1613386
gnomAD_AF
0.00000371
clinvar_id
559578
clinvar_classification
Uncertain significance
g_id
g16
g_name
ADAMTS13
comments
Uncertain significance
refState
complete
ref_id
1
Patients linked by mut_id
No linked patients found.