Variant detail

mut_id 110 · c.2651G>A · p.Trp884Ter

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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 884
HGVS
c.2651G>A
Protein change
p.Trp884Ter
rsID
rs781844998
GRCh38 coordinate
133445739
Location
exon 21
gnomAD AF
6.20E-07
Domain
Inter-domain / unassigned region
Gene
ADAMTS13

External links

dbSNP gnomAD

References

Long-term follow-up of patients with congenital thrombotic thrombocytopenia purpura receiving a plasma-derived factor VIII (Koate) that contains ADAMTS13
Authors: Chrisentery-Singleton T, Boggio LN, Carcao MD, Ibrahimi S, Khan O, Mahajerin A, Rajasekhar A, Sharma V, Steele M, Torres M, Rodino FJ, Carpenter SL.
Source: Haemophilia (2023)
Citation: Haemophilia. 2023 Nov;29(6):1638-1645. doi: 10.1111/hae.14891. Epub 2023 Oct 19.
PubMed: 37855744 · DOI: 10.1111/hae.14891

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 884 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Inter-domain / unassigned region
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; range=5–5
Age of onset
n=1; median=3; range=3–3
Age of diagnosis
n=1; median=15; range=15–15
Platelet count
n=1; median=10; range=10–10

Variant fields

mut_syn_HGVS
c.2651G>A
cdna_numb_HGVS
2651
cdna_numb_legacy
2651
nt_change
G>A
n_bp
1
nuc_numb
2651
g_numb
g16
aa_numb_HGVS
884
aa_numb_legacy
884
aa_first
Trp
aa_last
Ter
aa_syn
p.Trp884Ter
codon_first
TGG
codon_last
TAG
coordinate_GRCh38
133445739
gnomAD_AC
1
gnomAD_AN
1612348
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
10

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
1 110 24 10 cTTP compound_heterozygous China male 3 15 <5 10 no infection PI