Variant detail
mut_id 109 · c.2548G>A · p.Asp850Asn
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 850 AlphaMissense key D850N
HGVS
c.2548G>A
Protein change
p.Asp850Asn
rsID
rs782584684
GRCh38 coordinate
133444990
Location
exon 20
gnomAD AF
6.20E-07
Domain
TSP type-1 4
Gene
ADAMTS13
References
No references linked via ref_id / all_references / reference.
Amino-acid property change
Residue substitution
D → N at 850
AlphaMissense score
0.0891
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
negative → neutral
Polarity
polar → polar (unchanged)
Size
medium → medium (unchanged)
Residue type
acidic → Unknown
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -3.5 (unchanged)
Molecular weight
133.1 → 132.1
Original residue details
D
· aspartic acid
code: Asp
hydro: hydrophilic
charge: negative
polarity: polar
size: medium
type: acidic
code: Asp
hydro: hydrophilic
charge: negative
polarity: polar
size: medium
type: acidic
Variant residue details
N
· asparagine
code: Asn
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
code: Asn
hydro: hydrophilic
charge: neutral
polarity: polar
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 850 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 4
Domain colours match the homepage domain viewer.
Patient summary
No linked patients found for this variant.
Variant fields
mut_syn_HGVS
c.2548G>A
cdna_numb_HGVS
2548
cdna_numb_legacy
2548
nt_change
G>A
n_bp
1
nuc_numb
2548
g_numb
g16
aa_numb_HGVS
850
aa_numb_legacy
850
aa_first
Asp
aa_last
Asn
aa_syn
p.Asp850Asn
codon_first
GAT
codon_last
AAT
coordinate_GRCh38
133444990
gnomAD_AC
1
gnomAD_AN
1613510
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
332
Patients linked by mut_id
No linked patients found.