Variant detail

mut_id 293 · c.768_774dup · p.Gly259ProfsTer133

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Evidence at a glance

2
Linked patients
2
Patient-variant records
3
Linked references
2
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (2)
Common zygosity

Summary

Duplication frameshift_variant Residue 259 AlphaMissense key G259P
HGVS
c.768_774dup
Protein change
p.Gly259ProfsTer133
Location
exon 7
gnomAD AF
0.00000516
Domain
Metalloprotease
Gene
ADAMTS13

References

Pediatric thrombotic thrombocytopenic purpura
Authors: Joly BS, Coppo P, Veyradier A.
Source: Eur J Haematol (2018)
Citation: Eur J Haematol. 2018 Oct;101(4):425-434. doi: 10.1111/ejh.13107. Epub 2018 Aug 22.
PubMed: 29889319 · DOI: 10.1111/ejh.13107
Mutations and Common Polymorphisms in ADAMTS13 and vWF Genes Responsible for Increasing Risk of Thrombosis
Authors: Haybar H, Khodadi E, Kavianpour M, Saki N.
Source: Cardiovasc Hematol Disord Drug Targets (2018)
Citation: Cardiovasc Hematol Disord Drug Targets. 2018;18(3):176-181. doi: 10.2174/1871529X18666180419102214.
PubMed: 29669506 · DOI: 10.2174/1871529X18666180419102214
Characterization of autopsy findings including multivisceral glomeruloid vascular bodies in hereditary thrombotic thrombocytopenic purpura with two new variants in ADAMTS13 gene
Authors: Maragliano R, Perrot A, Loget P, Combescure C, Belhomme N, Faoucher M, Dubourg C, Fradin M, Collardeau-Frachon S
Source: Virchows Arch (2025)
Citation: Virchows Arch. 2025 Aug 4. doi: 10.1007/s00428-025-04200-8
PubMed: 40760196 · DOI: 10.1007/s00428-025-04200-8

Amino-acid property change

Residue substitution
G → P at 259
AlphaMissense score
0.2460
Likely benign
CSV class: LBen
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
small → medium
Residue type
aliphatic → Unknown
Typical protein position
surface → surface (unchanged)
Hydropathy index
-0.4 → -1.6
Molecular weight
75.1 → 115.1
Original residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic
Variant residue details
P · proline
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
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 259 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Belgium (1); Germany (1)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
male (1); female (1)
Pregnancy-related
no (1); yes (1)
Triggers
infection (1); pregnancy (1)
Treatment
PI (1); on-demand PI (1)
ADAMTS13 activity
n=2; median=7.5; range=5–10
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=20; range=20–20
Platelet count
n=1; median=9; range=9–9

Variant fields

mut_syn_HGVS
c.768_774dup
cdna_numb_HGVS
768
cdna_numb_legacy
768
nt_change
Duplication
n_bp
7
nuc_numb
768
g_numb
g16
aa_numb_HGVS
259
aa_numb_legacy
259
aa_first
Gly
aa_last
Pro
aa_syn
p.Gly259ProfsTer133
codon_first
G
codon_last
GCCGCGCC
gnomAD_AC
7
gnomAD_AN
1354224
gnomAD_AF
0.00000516
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
82, 220, 317

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
124 293 318 82 cTTP compound_heterozygous Belgium male 1 20 <10 9 no infection PI
330 293 133 220 cTTP compound_heterozygous Germany female unknown unknown <5 unknown yes pregnancy on-demand PI