Variant detail

mut_id 304 · c.1169G>A · p.Trp390Ter

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Evidence at a glance

2
Linked patients
2
Patient-variant records
4
Linked references
1
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (2)
Common zygosity

Summary

Point nonsense_variant Pathogenic Residue 390
HGVS
c.1169G>A
Protein change
p.Trp390Ter
rsID
rs374655146
ClinVar ID
1804165
GRCh38 coordinate
133433454
Location
exon 10
gnomAD AF
3.7189E-06
Domain
TSP type-1 1
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

NEPHRO-ZEBRA-a neonate with severe jaundice, persistent thrombocytopenia & recurrent acute kidney injury later in childhood: Joining the dots!
Authors: Sethi SK, Yadav SP, Moideen A, Raina R.
Source: J Nephrol (2024)
Citation: J Nephrol. 2024 Apr;37(3):827-829. doi: 10.1007/s40620-023-01848-w. Epub 2024 Jan 25.
PubMed: 38267796 · DOI: 10.1007/s40620-023-01848-w
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
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
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 390 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 1
Domain colours match the homepage domain viewer.

Patient summary

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

Variant fields

mut_syn_HGVS
c.1169G>A
cdna_numb_HGVS
1169
cdna_numb_legacy
1169
nt_change
G>A
n_bp
1
nuc_numb
1169
g_numb
g16
aa_numb_HGVS
390
aa_numb_legacy
390
aa_first
Trp
aa_last
Ter
aa_syn
p.Trp390Ter
codon_first
TGG
codon_last
TAG
coordinate_GRCh38
133433454
gnomAD_AC
6
gnomAD_AN
1613390
gnomAD_AF
3.7189E-06
clinvar_id
1804165
clinvar_classification
Pathogenic
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
7, 71, 186, 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
249 304 202 305 cTTP compound_heterozygous Germany female <1 <1 <2 unknown no none PI
345 304 202 186 cTTP compound_heterozygous Germany unknown <1 unknown unknown unknown unknown none unknown