Variant detail

mut_id 227 · c.4049delC · p.Glu1351ArgfsTer9

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Evidence at a glance

1
Linked patients
1
Patient-variant records
2
Linked references
1
Countries reported
cTTP (1)
Common phenotype
compound_heterozygous (1)
Common zygosity

Summary

Deletion Deletion
HGVS
c.4049delC
Protein change
p.Glu1351ArgfsTer9
Location
exon 29
Domain
Not available
Gene
ADAMTS13

References

Upshaw-Schulman Syndrome
Authors: Ahmad R, Natiq M, Aziz M.
Source: J Coll Physicians Surg Pak (2015)
Citation: J Coll Physicians Surg Pak. 2015 Oct;25 Suppl 2:S97-9. doi: 10.2015/JCPSP.S9799.
PubMed: 26522217 · DOI: 10.2015/JCPSP.S9799
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

Interactive AlphaFold structure

A residue-position-based structure view is only available when this variant has a numeric amino-acid position in aa_numb_HGVS. This record looks non-coding or splice-related, so no specific residue can be plotted directly.

Patient summary

Countries represented
Italy (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=3; range=3–3
Age of onset
n=1; median=12; range=12–12
Age of diagnosis
n=1; median=12; range=12–12
Platelet count
n=1; median=9; range=9–9

Variant fields

mut_syn_HGVS
c.4049delC
nt_change
Deletion
n_bp
1
g_numb
g16
aa_syn
p.Glu1351ArgfsTer9
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
98, 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
48 227 138 98 cTTP compound_heterozygous Italy male 12 12 <3 9 no none unknown