Variant detail

mut_id 4 · c.130C>T · p.Gln44Ter

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Evidence at a glance

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

Summary

Point nonsense_variant Pathogenic/Likely pathogenic Residue 44
HGVS
c.130C>T
Protein change
p.Gln44Ter
rsID
rs1554784015
ClinVar ID
3720917
GRCh38 coordinate
133423125
Location
exon 2
gnomAD AF
6.20E-07
Domain
Propeptide
Gene
ADAMTS13

External links

dbSNP ClinVar 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
Development of a clinically significant ADAMTS13 inhibitor in a patient with hereditary thrombotic thrombocytopenic purpura
Authors: Raval JS, Padmanabhan A, Kremer Hovinga JA, Kiss JE.
Source: Am J Hematol (2015)
Citation: Am J Hematol. 2015 Jan;90(1):E22. doi: 10.1002/ajh.23851. Epub 2014 Oct 18.
PubMed: 25219856 · DOI: 10.1002/ajh.23851
Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency
Authors: Assink K, Schiphorst R, Allford S, Karpman D, Etzioni A, Brichard B, van de Kar N, Monnens L, van den Heuvel L.
Source: Kidney Int (2003)
Citation: Kidney Int. 2003 Jun;63(6):1995-9. doi: 10.1046/j.1523-1755.63.6s.1.x.
PubMed: 12753286 · DOI: 10.1046/j.1523-1755.63.6s.1.x

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 44 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Propeptide
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Austria (2); Germany (1)
Phenotype
cTTP (3)
Zygosity
compound_heterozygous (3)
Sex
male (2); female (1)
Pregnancy-related
no (2); yes (1)
Triggers
none (2); unknown (1)
Treatment
unknown (3)
ADAMTS13 activity
n=3; median=3; range=3–10
Age of onset
n=1; median=19; range=19–19
Age of diagnosis
n=1; median=56; range=56–56
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.130C>T
cdna_numb_HGVS
130
cdna_numb_legacy
130
nt_change
C>T
n_bp
1
nuc_numb
130
g_numb
g16
aa_numb_HGVS
44
aa_numb_legacy
44
aa_first
Gln
aa_last
Ter
aa_syn
p.Gln44Ter
codon_first
CAG
codon_last
TAG
coordinate_GRCh38
133423125
gnomAD_AC
1
gnomAD_AN
1613902
gnomAD_AF
6.20E-07
clinvar_id
3720917
clinvar_classification
Pathogenic/Likely pathogenic
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 110, 182

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
61 4 133 110 cTTP compound_heterozygous Germany female 19 56 <10 unknown yes unknown unknown
293 4 269 182 cTTP compound_heterozygous Austria male unknown unknown <3 unknown no none unknown
294 4 269 182 cTTP compound_heterozygous Austria male unknown unknown <3 unknown no none unknown