Variant detail

mut_id 2 · c.83G>A · p.Trp28Ter

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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 Residue 28
HGVS
c.83G>A
Protein change
p.Trp28Ter
rsID
rs964642490
GRCh38 coordinate
133422526
Location
exon 1
gnomAD AF
0.00001115
Domain
Signal peptide
Gene
ADAMTS13

External links

dbSNP gnomAD

References

The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017
Authors: van Dorland HA, Taleghani MM, Sakai K, Friedman KD, George JN, Hrachovinova I, Knöbl PN, von Krogh AS, Schneppenheim R, Aebi-Huber I, Bütikofer L, Largiadèr CR, Cermakova Z, Kokame K, Miyata T, Yagi H, Terrell DR, Vesely SK, Matsumoto M, Lämmle B, Fujimura Y, Kremer Hovinga JA; Hereditary TTP Registry.
Source: Haematologica (2019)
Citation: Haematologica. 2019 Oct;104(10):2107-2115. doi: 10.3324/haematol.2019.216796. Epub 2019 Feb 21.
PubMed: 30792199 · DOI: 10.3324/haematol.2019.216796

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 28 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Signal peptide
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Belgium (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=3; range=3–3
Age of onset
n=1; median=31; range=31–31
Age of diagnosis
n=1; median=31; range=31–31
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.83G>A
cdna_numb_HGVS
83
cdna_numb_legacy
83
nt_change
G>A
n_bp
1
nuc_numb
83
g_numb
g16
aa_numb_HGVS
28
aa_numb_legacy
28
aa_first
Trp
aa_last
Ter
aa_syn
p.Trp28Ter
codon_first
TGG
codon_last
TAG
coordinate_GRCh38
133422526
gnomAD_AC
18
gnomAD_AN
1614106
gnomAD_AF
0.00001115
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
72, 332

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
288 2 133 316 cTTP compound_heterozygous Belgium female 31 31 3 unknown yes pregnancy PI