Variant detail
mut_id 120 · c.2865G>A · p.Trp955X
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 nonsense_variant Residue 955
HGVS
c.2865G>A
Protein change
p.Trp955X
GRCh38 coordinate
133449786
Location
exon 23
Domain
TSP type-1 6
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 955 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 6
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.2865G>A
cdna_numb_HGVS
2865
cdna_numb_legacy
2865
nt_change
G>A
n_bp
1
nuc_numb
2865
g_numb
g16
aa_numb_HGVS
955
aa_numb_legacy
955
aa_first
Trp
aa_last
Ter
aa_syn
p.Trp955X
codon_first
TGG
codon_last
TGA
coordinate_GRCh38
133449786
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 | 120 | 36 | 290 | cTTP | compound_heterozygous | China | female | 16 | 21 | <0.1 | 14 | yes | pregnancy | PI |