Variant detail

mut_id 48 · c.1007_1025dup19 · p.Asp343LeufsTer53

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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

Insertion Insertion Residue 343 AlphaMissense key D343L
HGVS
c.1007_1025dup19
Protein change
p.Asp343LeufsTer53
GRCh38 coordinate
133432607
Location
exon 9
Domain
Disintegrin
Gene
ADAMTS13

External links

gnomAD

References

A novel homozygous frameshift mutation in Exon 7 of the ADAMTS13 gene in a patient with congenital thrombotic thrombocytopenic purpura from India: a case report
Authors: Yadav S, Shetty S, Kulkarni B.
Source: Transfusion (2017)
Citation: Transfusion. 2017 Nov;57(11):2712-2714. doi: 10.1111/trf.14279. Epub 2017 Aug 21.
PubMed: 28833243 · DOI: 10.1111/trf.14279

Amino-acid property change

Residue substitution
D → L at 343
AlphaMissense score
0.3894
Uncertain
CSV class: Amb
Hydrophobicity
hydrophilic → hydrophobic
Charge
negative → neutral
Polarity
polar → nonpolar
Size
medium → large
Residue type
acidic → aliphatic
Typical protein position
surface → buried
Hydropathy index
-3.5 → 3.8
Molecular weight
133.1 → 131.2
Original residue details
D · aspartic acid
code: Asp
hydro: hydrophilic
charge: negative
polarity: polar
size: medium
type: acidic
Variant residue details
L · leucine
code: Leu
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aliphatic

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

Patient summary

Countries represented
China (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
unknown (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=5; range=5–5
Platelet count
n=1; median=35; range=35–35

Variant fields

mut_syn_HGVS
c.1007_1025dup19
nt_change
Duplication
n_bp
19
g_numb
g16
aa_numb_HGVS
343
aa_numb_legacy
343
aa_first
Asp
aa_last
Leu
aa_syn
p.Asp343LeufsTer53
coordinate_GRCh38
133432607
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
87

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
66 48 324 87 cTTP compound_heterozygous China female <1 5 <5 35 no unknown PI