Variant detail
mut_id 106 · c.2397C>A · p.Cys799Ter
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 799
HGVS
c.2397C>A
Protein change
p.Cys799Ter
GRCh38 coordinate
133443538
Location
exon 19
Domain
TSP type-1 3
Gene
ADAMTS13
External links
References
Hereditary thrombotic thrombocytopenic purpura: a case report
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 799 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 3
Domain colours match the homepage domain viewer.
Patient summary
Countries represented
China (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (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=8; range=8–8
Age of diagnosis
n=1; median=12; range=12–12
Platelet count
n=1; median=1; range=1–1
Variant fields
mut_syn_HGVS
c.2397C>A
cdna_numb_HGVS
2397
cdna_numb_legacy
2397
nt_change
C>A
n_bp
1
nuc_numb
2397
g_numb
g16
aa_numb_HGVS
799
aa_numb_legacy
799
aa_first
Cys
aa_last
Ter
aa_syn
p.Cys799Ter
codon_first
TGC
codon_last
TGA
coordinate_GRCh38
133443538
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
51
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 18 | 106 | 279 | 51 | cTTP | compound_heterozygous | China | male | 8 | 12 | <5 | 1 | no | none | unknown |