Variant detail

mut_id 83 · c.1703G>T · p.Arg568Ile

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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 568 AlphaMissense key R568I
HGVS
c.1703G>T
Protein change
p.Arg568Ile
rsID
rs1554789735
GRCh38 coordinate
133438364
Location
exon 14
gnomAD AF
0.00000185
Domain
Spacer
Gene
ADAMTS13

External links

dbSNP gnomAD

References

No references linked via ref_id / all_references / reference.

Amino-acid property change

Residue substitution
R → I at 568
AlphaMissense score
0.4663
Uncertain
CSV class: Amb
Hydrophobicity
hydrophilic → hydrophobic
Charge
postive → neutral
Polarity
polar → nonpolar
Size
large → large (unchanged)
Residue type
basic → aliphatic
Typical protein position
surface → buried
Hydropathy index
-4.5 → 4.5
Molecular weight
174.2 → 131.2
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
I · isoleucine
code: Ile
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
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 568 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Spacer
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.1703G>T
cdna_numb_HGVS
1703
cdna_numb_legacy
1703
nt_change
G>T
n_bp
1
nuc_numb
1703
g_numb
g16
aa_numb_HGVS
568
aa_numb_legacy
568
aa_first
Arg
aa_last
Ile
aa_syn
p.Arg568Ile
codon_first
AGA
codon_last
ATA
coordinate_GRCh38
133438364
gnomAD_AC
3
gnomAD_AN
1613754
gnomAD_AF
0.00000185
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
332

Patients linked by mut_id

No linked patients found.