Variant detail

mut_id 58 · c.1285C>T · p.Gln429Ter

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Evidence at a glance

2
Linked patients
2
Patient-variant records
3
Linked references
2
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (2)
Common zygosity

Summary

Point nonsense_variant Residue 429
HGVS
c.1285C>T
Protein change
p.Gln429Ter
GRCh38 coordinate
133433682
Location
exon 11
Domain
TSP type-1 1
Gene
ADAMTS13

External links

gnomAD

References

A Case Report of Congenital Thrombotic Thrombocytopenic Purpura: The Peripheral Blood Smear Lights the Diagnosis
Authors: Toret E, Demir-Kolsuz O, Ozdemir ZC, Bor O.
Source: J Pediatr Hematol Oncol (2022)
Citation: J Pediatr Hematol Oncol. 2022 Jan 1;44(1):e243-e245. doi: 10.1097/MPH.0000000000002032.
PubMed: 33306605 · DOI: 10.1097/MPH.0000000000002032
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
Congenital late onset thrombotic thrombocytopenic purpura: a diagnostic challenge
Authors: Enjeti AK, Chapman K, Taylor PJ, Meldrum C.
Source: Pathology (2015)
Citation: Pathology. 2015 Oct;47(6):585-6. doi: 10.1097/PAT.0000000000000303.
PubMed: 26352112 · DOI: 10.1097/PAT.0000000000000303

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

Patient summary

Countries represented
Italy (1); Switzerland (1)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
female (2)
Pregnancy-related
no (1); yes (1)
Triggers
infection (1); pregnancy (1)
Treatment
PI (1); none (1)
ADAMTS13 activity
n=2; median=3.5; range=1–6
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=27; range=27–27
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.1285C>T
cdna_numb_HGVS
1285
cdna_numb_legacy
1285
nt_change
C>T
n_bp
1
nuc_numb
1285
g_numb
g16
aa_numb_HGVS
429
aa_numb_legacy
429
aa_first
Gln
aa_last
Ter
aa_syn
p.Gln429Ter
codon_first
CAG
codon_last
TAG
coordinate_GRCh38
133433682
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
48, 71, 233

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
198 58 256 233 cTTP compound_heterozygous Italy female <1 unknown <6 unknown no infection PI
371 58 133 48 cTTP compound_heterozygous Switzerland female unknown 27 <1 unknown yes pregnancy none