Variant detail

mut_id 243 · c.762_774del · p.Pro256Serfs*12

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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
compound_heterozygous (1)
Common zygosity

Summary

Deletion Deletion
HGVS
c.762_774del
Protein change
p.Pro256Serfs*12
Location
exon 7
Domain
Not available
Gene
ADAMTS13

References

Complement activation associated with ADAMTS13 deficiency may contribute to the characteristic glomerular manifestations in Upshaw-Schulman syndrome
Authors: Itami H, Hara S, Matsumoto M, Imamura S, Kanai R, Nishiyama K, Ishimura M, Ohga S, Yoshida M, Tanaka R, Ogawa Y, Asada Y, Sekita-Hatakeyama Y, Hatakeyama K, Ohbayashi C.
Source: Thromb Res (2018)
Citation: Thromb Res. 2018 Oct;170:148-155. doi: 10.1016/j.thromres.2018.08.020. Epub 2018 Sep 1.
PubMed: 30195146 · DOI: 10.1016/j.thromres.2018.08.020

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
Portugal (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=10; range=10–10
Age of onset
n=1; median=26; range=26–26
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.762_774del
cdna_numb_HGVS
762
cdna_numb_legacy
762
nt_change
Deletion
n_bp
12
nuc_numb
762
g_numb
g16
aa_syn
p.Pro256Serfs*12
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
78

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
319 243 337 78 cTTP compound_heterozygous Portugal female 26 unknown <10 unknown yes pregnancy PI