Variant detail
mut_id 46 · c.932G>A · p.Cys311Tyr
Evidence at a glance
0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity
Summary
Point missense_variant Residue 311 AlphaMissense key C311Y
HGVS
c.932G>A
Protein change
p.Cys311Tyr
Location
exon 8
Domain
Disintegrin
Gene
ADAMTS13
References
Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13
Amino-acid property change
Residue substitution
C → Y at 311
AlphaMissense score
0.9758
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
Unknown → aromatic
Typical protein position
buried → surface
Hydropathy index
2.5 → -1.3
Molecular weight
121.2 → 181.2
Original residue details
C
· cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
Y
· tyrosine
code: Tyr
hydro: hydrophobic
charge: neutral
polarity: polar
size: large
type: aromatic
code: Tyr
hydro: hydrophobic
charge: neutral
polarity: polar
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 311 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Disintegrin
Domain colours match the homepage domain viewer.
Patient summary
No linked patients found for this variant.
Variant fields
mut_syn_HGVS
c.932G>A
cdna_numb_HGVS
932
cdna_numb_legacy
932
nt_change
G>A
n_bp
1
nuc_numb
932
g_numb
g16
aa_numb_HGVS
311
aa_numb_legacy
311
aa_first
Cys
aa_last
Tyr
aa_syn
p.Cys311Tyr
codon_first
TGC
codon_last
TAC
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
181
Patients linked by mut_id
No linked patients found.