Variant detail
mut_id 276 · c.470G>A · p.Trp157Ter
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 157
HGVS
c.470G>A
Protein change
p.Trp157Ter
Location
exon 5
gnomAD AF
6.20E-07
Domain
Metalloprotease
Gene
ADAMTS13
References
Novel homozygous ADAMTS13 mutation with neonatal presentation of congenital thrombotic thrombocytopenic purpura in two Indian origin babies
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 157 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.
Patient summary
Countries represented
Germany (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
none (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
Not available
Platelet count
Not available
Variant fields
mut_syn_HGVS
c.470G>A
cdna_numb_HGVS
470
cdna_numb_legacy
470
nt_change
G>A
n_bp
1
nuc_numb
470
g_numb
g16
aa_numb_HGVS
157
aa_numb_legacy
157
aa_first
Trp
aa_last
Ter
aa_syn
p.Trp157Ter
codon_first
TGG
codon_last
TAG
gnomAD_AC
1
gnomAD_AN
1614008
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
305
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 252 | 276 | 45 | 305 | cTTP | compound_heterozygous | Germany | male | <1 | unknown | <5 | unknown | no | none | none |