Variant detail
mut_id 321 · c.1786+1G>A · p.Glu569Alafs*27
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
Point Splicing Residue 569
HGVS
c.1786+1G>A
Protein change
p.Glu569Alafs*27
rsID
rs782077726
Location
intron 15
gnomAD AF
6.20E-07
Domain
Spacer
Gene
ADAMTS13
External links
References
Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura
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 569 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Spacer
Domain colours match the homepage domain viewer.
Patient summary
Countries represented
China (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
unknown (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
n=1; median=5; range=5–5
Variant fields
mut_syn_HGVS
c.1786+1G>A
cdna_numb_HGVS
1786
cdna_numb_legacy
1786
nt_change
G>A
n_bp
1
nuc_numb
1786
g_numb
g16
aa_numb_HGVS
569
aa_numb_legacy
569
aa_syn
p.Glu569Alafs*27
gnomAD_AC
1
gnomAD_AN
1613578
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
140
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 118 | 321 | 38 | 140 | cTTP | compound_heterozygous | China | female | <1 | 1 | <5 | 5 | no | unknown | unknown |