Variant detail

mut_id 72 · c.1435_1436insG · p.Asp480GlyfsTer54

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Evidence at a glance

1
Linked patients
1
Patient-variant records
2
Linked references
1
Countries reported
cTTP (1)
Common phenotype
compound_heterozygous (1)
Common zygosity

Summary

Insertion frameshift_variant Residue 480 AlphaMissense key D480G
HGVS
c.1435_1436insG
Protein change
p.Asp480GlyfsTer54
GRCh38 coordinate
133437748
Location
exon 13
Domain
Cysteine-rich
Gene
ADAMTS13

External links

gnomAD

References

Infection as Trigger for Congenital Thrombotic Thrombocytopenic Purpura in an Adult Patient
Authors: Lozano Jaramillo DA, Jimenez Ochoa MA.
Source: J Med Cases (2021)
Citation: J Med Cases. 2021 Sep;12(9):339-342. doi: 10.14740/jmc3737. Epub 2021 Aug 25.
PubMed: 34527101 · DOI: 10.14740/jmc3737
Congenital Thrombotic Thrombocytopenic Purpura With a Novel ADAMTS13 Gene Mutation
Authors: Rashid A, Mushtaq N, Mansoori H.
Source: Cureus (2020)
Citation: Cureus. 2020 Dec 13;12(12):e12053. doi: 10.7759/cureus.12053.
PubMed: 33447482 · DOI: 10.7759/cureus.12053

Amino-acid property change

Residue substitution
D → G at 480
AlphaMissense score
0.2129
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophobic
Charge
negative → neutral
Polarity
polar → polar (unchanged)
Size
medium → small
Residue type
acidic → aliphatic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -0.4
Molecular weight
133.1 → 75.1
Original residue details
D · aspartic acid
code: Asp
hydro: hydrophilic
charge: negative
polarity: polar
size: medium
type: acidic
Variant residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
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 480 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Cysteine-rich
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
yes (1)
Triggers
pregnancy (1)
Treatment
on-demand PI (1)
ADAMTS13 activity
n=1; median=1.1; range=1.1–1.1
Age of onset
n=1; median=26; range=26–26
Age of diagnosis
n=1; median=26; range=26–26
Platelet count
n=1; median=6; range=6–6

Variant fields

mut_syn_HGVS
c.1435_1436insG
cdna_numb_HGVS
1435
cdna_numb_legacy
1435
nt_change
Insertion
n_bp
1
nuc_numb
1435
g_numb
g16
aa_numb_HGVS
480
aa_numb_legacy
480
aa_first
Asp
aa_last
Gly
aa_syn
p.Asp480GlyfsTer54
codon_first
GAT
codon_last
GGA
coordinate_GRCh38
133437748
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
38, 46

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
10 72 56 38 cTTP compound_heterozygous China female 26 26 1.1 6 yes pregnancy on-demand PI