Variant detail

mut_id 130 · c.3100A>T · p.Arg1034Ter

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Evidence at a glance

4
Linked patients
4
Patient-variant records
5
Linked references
1
Countries reported
cTTP (4)
Common phenotype
compound_heterozygous (4)
Common zygosity

Summary

Point nonsense_variant Residue 1034
HGVS
c.3100A>T
Protein change
p.Arg1034Ter
GRCh38 coordinate
133454470
Location
exon 24
Domain
TSP type-1 7
Gene
ADAMTS13

External links

gnomAD

References

Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review
Authors: Beauvais D, Venditti L, Chassin O, Joly B, Ameri A, Boisseau P, Lambotte O, Coppo P, Veyradier A, Denier C.
Source: J Stroke Cerebrovasc Dis (2019)
Citation: J Stroke Cerebrovasc Dis. 2019 Jun;28(6):1537-1539. doi: 10.1016/j.jstrokecerebrovasdis.2019.03.011. Epub 2019 Mar 28.
PubMed: 30930238 · DOI: 10.1016/j.jstrokecerebrovasdis.2019.03.011
Thrombotic thrombocytopenic purpura in a newborn
Authors: Jubinsky PT, Moraille R, Tsai HM.
Source: J Perinatol (2003)
Citation: J Perinatol. 2003 Jan;23(1):85-7. doi: 10.1038/sj.jp.7210853.
PubMed: 12556937 · DOI: 10.1038/sj.jp.7210853
Remission of thrombotic thrombocytopenic purpura in a patient with compound heterozygous deficiency of von Willebrand factor-cleaving protease by infusion of solvent/detergent plasma
Authors: Kentouche K, Budde U, Furlan M, Scharfe V, Schneppenheim R, Zintl F.
Source: Acta Paediatr (2002)
Citation: Acta Paediatr. 2002;91(10):1056-9. doi: 10.1080/080352502760311548.
PubMed: 12434890 · DOI: 10.1080/080352502760311548
Mutations and Common Polymorphisms in ADAMTS13 and vWF Genes Responsible for Increasing Risk of Thrombosis
Authors: Haybar H, Khodadi E, Kavianpour M, Saki N.
Source: Cardiovasc Hematol Disord Drug Targets (2018)
Citation: Cardiovasc Hematol Disord Drug Targets. 2018;18(3):176-181. doi: 10.2174/1871529X18666180419102214.
PubMed: 29669506 · DOI: 10.2174/1871529X18666180419102214
Novel homozygous ADAMTS13 mutation with neonatal presentation of congenital thrombotic thrombocytopenic purpura in two Indian origin babies
Authors: Debaditya Das, Ming Wei Lee, Shivani Dogra, Bikramjit Das, Joyce Lam, Sudip Sengupta, Rajat Bhattacharyya
Source: Pediatric Hematology Oncology Journal (2019)
Citation: Pediatric Hematology Oncology Journal, Valume 4, Issue 1, 2019. Pages 27-29, ISSN 2468-1245
DOI: 10.1016/j.phoj.2018.12.001

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 1034 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 7
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Germany (4)
Phenotype
cTTP (4)
Zygosity
compound_heterozygous (4)
Sex
female (3); unknown (1)
Pregnancy-related
no (2); unknown (2)
Triggers
none (4)
Treatment
PI (3); unknown (1)
ADAMTS13 activity
n=4; median=2; range=1–2
Age of onset
n=4; median=1; range=1–1
Age of diagnosis
n=2; median=16; range=16–16
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.3100A>T
cdna_numb_HGVS
3100
cdna_numb_legacy
3100
nt_change
A>T
n_bp
1
nuc_numb
3100
g_numb
g16
aa_numb_HGVS
1034
aa_numb_legacy
1034
aa_first
Arg
aa_last
Ter
aa_syn
p.Arg1034Ter
codon_first
AGA
codon_last
TGA
coordinate_GRCh38
133454470
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 185, 186, 220, 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
247 130 273 305 cTTP compound_heterozygous Germany female <1 16 <2 unknown no none PI
292 130 273 185 cTTP compound_heterozygous Germany female <1 16 <1 unknown no none PI
338 130 273 220 cTTP compound_heterozygous Germany female <1 unknown <2 unknown unknown none PI
343 130 273 186 cTTP compound_heterozygous Germany unknown <1 unknown <2 unknown unknown none unknown