Variant detail

mut_id 204 · c.2731+1G>A

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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

Point Splicing
HGVS
c.2731+1G>A
Location
exon 21
Domain
Not available
Gene
ADAMTS13

References

Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review
Authors: Beauvais D, Venditti L, Chassin O, Joly B, Ameri A, Boisseau P, Lambotte O, Coppo P, Veyradier A, Denier C.
Source: J Stroke Cerebrovasc Dis (2019)
Citation: J Stroke Cerebrovasc Dis. 2019 Jun;28(6):1537-1539. doi: 10.1016/j.jstrokecerebrovasdis.2019.03.011. Epub 2019 Mar 28.
PubMed: 30930238 · DOI: 10.1016/j.jstrokecerebrovasdis.2019.03.011
Upshaw-Schulman syndrome-associated ADAMTS13 variants possess proteolytic activity at the surface of endothelial cells and in simulated circulation
Authors: Letzer A, Lehmann K, Mess C, König G, Obser T, Peine S, Schneppenheim S, Budde U, Schneider SW, Schneppenheim R, Brehm MA
Source: PloS One (2020)
Citation: PLoS One. 2020 May 4;15(5):e0232637. doi: 10.1371/journal.pone.0232637.
PubMed: 32365113 · DOI: 10.1371/journal.pone.0232637

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
China (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=1; range=1–1
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.2731+1G>A
cdna_numb_HGVS
2731
cdna_numb_legacy
2731
nt_change
G>A
n_bp
1
nuc_numb
2731
g_numb
g16
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 304

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
254 204 198 304 cTTP compound_heterozygous China female <1 1 <5 unknown no none unknown