Variant detail
mut_id 151 · c.3667G>T · p.Glu1223Ter
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 1223
HGVS
c.3667G>T
Protein change
p.Glu1223Ter
Location
exon 27
gnomAD AF
6.25E-07
Domain
CUB 1
Gene
ADAMTS13
References
Hereditary Thrombotic Thrombocytopenic Purpura in a Chinese Boy With a Novel Compound Heterozygous Mutation of the ADAMTS13 Gene
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 1223 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: CUB 1
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
Not available
Age of onset
n=1; median=24; range=24–24
Age of diagnosis
n=1; median=24; range=24–24
Platelet count
n=1; median=15; range=15–15
Variant fields
mut_syn_HGVS
c.3667G>T
cdna_numb_HGVS
3667
cdna_numb_legacy
3667
nt_change
G>T
n_bp
1
nuc_numb
3667
g_numb
g16
aa_numb_HGVS
1223
aa_numb_legacy
1223
aa_first
Glu
aa_last
Ter
aa_syn
p.Glu1223Ter
codon_first
GGA
codon_last
TGA
gnomAD_AC
1
gnomAD_AN
1600350
gnomAD_AF
6.25E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
52
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 19 | 151 | 141 | 52 | cTTP | compound_heterozygous | China | female | 24 | 24 | unknown | 15 | yes | pregnancy | PI |