Variant detail

mut_id 105 · c.2357G>A · p.Arg786Lys

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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 786 AlphaMissense key R786K
HGVS
c.2357G>A
Protein change
p.Arg786Lys
GRCh38 coordinate
133443498
Location
exon 19
Domain
TSP type-1 3
Gene
ADAMTS13

External links

gnomAD

References

No references linked via ref_id / all_references / reference.

Amino-acid property change

Residue substitution
R → K at 786
AlphaMissense score
0.1215
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
postive → postive (unchanged)
Polarity
polar → polar (unchanged)
Size
large → large (unchanged)
Residue type
basic → basic (unchanged)
Typical protein position
surface → surface (unchanged)
Hydropathy index
-4.5 → -3.9
Molecular weight
174.2 → 146.2
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
K · lysine
code: Lys
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic

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 786 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 3
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.2357G>A
cdna_numb_HGVS
2357
cdna_numb_legacy
2357
nt_change
G>A
n_bp
1
nuc_numb
2357
g_numb
g16
aa_numb_HGVS
786
aa_numb_legacy
786
aa_first
Arg
aa_last
Lys
aa_syn
p.Arg786Lys
codon_first
AGA
codon_last
AAA
coordinate_GRCh38
133443498
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
332

Patients linked by mut_id

No linked patients found.