Variant detail

mut_id 306 · c.1177C>T · p.Arg393Ter

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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 Pathogenic Residue 393
HGVS
c.1177C>T
Protein change
p.Arg393Ter
rsID
rs782570540
ClinVar ID
1163033
GRCh38 coordinate
133433462
Location
exon 10
gnomAD AF
9.2967E-06
Domain
TSP type-1 1
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

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

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

Patient summary

Countries represented
Germany (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
unknown (1)
Triggers
none (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=4; range=4–4
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.1177C>T
cdna_numb_HGVS
1177
cdna_numb_legacy
1177
nt_change
C>T
n_bp
1
nuc_numb
1177
g_numb
g16
aa_numb_HGVS
393
aa_numb_legacy
393
aa_first
Arg
aa_last
Ter
aa_syn
p.Arg393Ter
codon_first
CGA
codon_last
TGA
coordinate_GRCh38
133433462
gnomAD_AC
15
gnomAD_AN
1613468
gnomAD_AF
9.2967E-06
clinvar_id
1163033
clinvar_classification
Pathogenic
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
220

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
337 306 273 220 cTTP compound_heterozygous Germany female <1 unknown <4 unknown unknown none PI