Variant detail

mut_id 365 · c.1192C>G · p.Arg398Gly

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Evidence at a glance

1
Linked patients
1
Patient-variant records
0
Linked references
1
Countries reported
cTTP (1)
Common phenotype
homozygous (1)
Common zygosity

Summary

Point missense_variant Residue 398 AlphaMissense key R398G
HGVS
c.1192C>G
Protein change
p.Arg398Gly
Location
exon 10
Domain
TSP type-1 1
Gene
ADAMTS13

References

No references linked via ref_id / all_references / reference.

Amino-acid property change

Residue substitution
R → G at 398
AlphaMissense score
0.8918
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
postive → neutral
Polarity
polar → polar (unchanged)
Size
large → small
Residue type
basic → aliphatic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-4.5 → -0.4
Molecular weight
174.2 → 75.1
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
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 398 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 1
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Oman (1)
Phenotype
cTTP (1)
Zygosity
homozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=1; range=1–1
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=1; range=1–1
Platelet count
n=1; median=29; range=29–29

Variant fields

mut_syn_HGVS
c.1192C>G
cdna_numb_HGVS
1192
cdna_numb_legacy
1192
nt_change
C>G
n_bp
1
nuc_numb
1192
g_numb
g16
aa_numb_HGVS
398
aa_numb_legacy
398
aa_first
Arg
aa_last
Gly
aa_syn
p.Arg398Gly
codon_first
CGC
codon_last
GGC
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
324

Patients linked by mut_id

patient_id mut_id compound_partner_mut_id ref_id phenotype zygosity country sex age_of_onset age_of_diagnosis ad13_activity platelet_count pregnancy_related triggers treatment
275 365 . 324 cTTP homozygous Oman male <1 <1 <1 29 no none PI