Variant detail
mut_id 251 · c.3121C>T · p.Gln1041Ter
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 104
HGVS
c.3121C>T
Protein change
p.Gln1041Ter
Location
exon 24
gnomAD AF
6.20E-07
Domain
Metalloprotease
Gene
ADAMTS13
References
Neonate with Congenital Thrombotic Thrombocytopenic Purpura: a Case Report of a de novo Compound Heterozygote Mutation in ADAMTS13 Gene and Review of Literature
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 104 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
male (1)
Pregnancy-related
no (1)
Triggers
infection (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=5.7; range=5.7–5.7
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=5; range=5–5
Platelet count
n=1; median=34; range=34–34
Variant fields
mut_syn_HGVS
c.3121C>T
cdna_numb_HGVS
3121
cdna_numb_legacy
3121
nt_change
C>T
n_bp
1
nuc_numb
3121
g_numb
g16
aa_numb_HGVS
104
aa_numb_legacy
104
aa_first
Gln
aa_last
Ter
aa_syn
p.Gln1041Ter
codon_first
CAG
codon_last
TAG
gnomAD_AC
1
gnomAD_AN
1612934
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
59
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 23 | 251 | 258 | 59 | cTTP | compound_heterozygous | China | male | <1 | 5 | 5.7 | 34 | no | infection | PI |