Variant detail

mut_id 84 · c.1778C>T · p.Thr593Ile

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Evidence at a glance

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

Summary

Point missense_variant Residue 593 AlphaMissense key T593I
HGVS
c.1778C>T
Protein change
p.Thr593Ile
GRCh38 coordinate
133439438
Location
exon 15
gnomAD AF
6.20E-07
Domain
Spacer
Gene
ADAMTS13

External links

gnomAD

References

Atypical thrombotic thrombocytopenic purpura in a middle-aged woman who presented with a recurrent stroke
Authors: Idowu M, Reddy P.
Source: Am J Hematol (2013)
Citation: Am J Hematol. 2013 Mar;88(3):237-9. doi: 10.1002/ajh.23249. Epub 2012 May 28.
PubMed: 22641399 · DOI: 10.1002/ajh.23249

Amino-acid property change

Residue substitution
T → I at 593
AlphaMissense score
0.8312
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
medium → large
Residue type
Unknown → aliphatic
Typical protein position
surface → buried
Hydropathy index
-0.7 → 4.5
Molecular weight
119.1 → 131.2
Original residue details
T · threonine
code: Thr
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
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 593 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Spacer
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Turkey (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=8.7; range=8.7–8.7
Age of onset
Not available
Age of diagnosis
n=1; median=12; range=12–12
Platelet count
n=1; median=10; range=10–10

Variant fields

mut_syn_HGVS
c.1778C>T
cdna_numb_HGVS
1778
cdna_numb_legacy
1778
nt_change
C>T
n_bp
1
nuc_numb
1778
g_numb
g16
aa_numb_HGVS
593
aa_numb_legacy
593
aa_first
Thr
aa_last
Ile
aa_syn
p.Thr593Ile
codon_first
ACA
codon_last
ATA
coordinate_GRCh38
133439438
gnomAD_AC
1
gnomAD_AN
1613940
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
293

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
261 84 . 293 cTTP homozygous Turkey male unknown 12 8.7 10 no none PI