Variant detail
mut_id 36 · c.721delG · p.Gly241fs
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 Residue 241
HGVS
c.721delG
Protein change
p.Gly241fs
GRCh38 coordinate
133428668
Location
exon 7
Domain
Metalloprotease
Gene
ADAMTS13
External links
References
Unusual Presentation of Thrombotic Thrombocytopenic Purpura in a Newly Diagnosed Pediatric Patient With Systemic Lupus Erythematosus in the Setting of MIS-C
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 241 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
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
yes (1)
Triggers
pregnancy (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=0.1; range=0.1–0.1
Age of onset
n=1; median=16; range=16–16
Age of diagnosis
n=1; median=21; range=21–21
Platelet count
n=1; median=14; range=14–14
Variant fields
mut_syn_HGVS
c.721delG
cdna_numb_HGVS
721
cdna_numb_legacy
721
nt_change
Deletion
n_bp
1
nuc_numb
721
g_numb
g16
aa_numb_HGVS
241
aa_numb_legacy
241
aa_first
Gly
aa_last
Gly
aa_syn
p.Gly241fs
coordinate_GRCh38
133428668
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
290
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 134 | 36 | 120 | 290 | cTTP | compound_heterozygous | China | female | 16 | 21 | <0.1 | 14 | yes | pregnancy | PI |