Variant detail
mut_id 139 · c.3252_3253delCT · p.Arg1096Ter
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 nonsense_variant Residue 1096
HGVS
c.3252_3253delCT
Protein change
p.Arg1096Ter
GRCh38 coordinate
133455287
Location
exon 25
Domain
TSP type-1 8
Gene
ADAMTS13
External links
References
An enzyme immunoassay of ADAMTS13 distinguishes patients with thrombotic thrombocytopenic purpura from normal individuals and carriers of ADAMTS13 mutations
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 1096 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 8
Domain colours match the homepage domain viewer.
Patient summary
Countries represented
Mauritius (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.3252_3253delCT
cdna_numb_HGVS
3252
cdna_numb_legacy
3252
nt_change
Deletion
n_bp
2
nuc_numb
3252
g_numb
g16
aa_numb_HGVS
1096
aa_numb_legacy
1096
aa_first
Arg
aa_last
Ter
aa_syn
p.Arg1096Ter
coordinate_GRCh38
133455287
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
176
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 268 | 139 | 28 | 176 | cTTP | compound_heterozygous | Mauritius | female | <1 | <1 | <5 | unknown | no | none | unknown |