Variant detail

mut_id 184 · c.1639_1640del · p.Val547ValfsTer66

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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

Deletion Deletion
HGVS
c.1639_1640del
Protein change
p.Val547ValfsTer66
Location
exon 14
Domain
Not available
Gene
ADAMTS13

References

Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura
Authors: Lotta LA, Wu HM, Mackie IJ, Noris M, Veyradier A, Scully MA, Remuzzi G, Coppo P, Liesner R, Donadelli R, Loirat C, Gibbs RA, Horne A, Yang S, Garagiola I, Musallam KM, Peyvandi F
Source: Blood (2012)
Citation: Blood. 2012 Jul 12;120(2):440-8. doi: 10.1182/blood-2012-01-403113. Epub 2012 Apr 23
PubMed: 22529288 · DOI: 10.1182/blood-2012-01-403113

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
India (1)
Phenotype
cTTP (1)
Zygosity
homozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
infection (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=1.2; range=1.2–1.2
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=2; range=2–2
Platelet count
n=1; median=23; range=23–23

Variant fields

mut_syn_HGVS
c.1639_1640del
cdna_numb_HGVS
1639
cdna_numb_legacy
1639
nt_change
Deletion
n_bp
1
nuc_numb
1639
g_numb
g16
aa_syn
p.Val547ValfsTer66
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
313

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
283 184 . 313 cTTP homozygous India female <1 2 1.2 23 no infection PI