Variant detail

mut_id 98 · c.2130C>G · p.Cys710Trp

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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 missense_variant Residue 710 AlphaMissense key C710W
HGVS
c.2130C>G
Protein change
p.Cys710Trp
GRCh38 coordinate
133442639
Location
exon 18
Domain
TSP type-1 2
Gene
ADAMTS13

External links

gnomAD

References

Delayed diagnosis of congenital thrombotic thrombocytopenic purpura in a patient with recurrent strokes
Authors: Beltrami-Moreira M, DeSancho MT.
Source: J Thromb Thrombolysis (2022)
Citation: J Thromb Thrombolysis. 2022 Apr;53(3):734-738. doi: 10.1007/s11239-021-02629-7. Epub 2022 Jan 12.
PubMed: 35022991 · DOI: 10.1007/s11239-021-02629-7

Amino-acid property change

Residue substitution
C → W at 710
AlphaMissense score
0.9501
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
medium → large
Residue type
Unknown → aromatic
Typical protein position
buried → buried (unchanged)
Hydropathy index
2.5 → -0.9
Molecular weight
121.2 → 204.2
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
W · tryptophan
code: Trp
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aromatic

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 710 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 2
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
none (1)
Treatment
nifedipine (1); dypyridamole (1); coated aldehyde oxystarch capsules (1)
ADAMTS13 activity
n=1; median=2.5; range=2.5–2.5
Age of onset
n=1; median=2; range=2–2
Age of diagnosis
n=1; median=10; range=10–10
Platelet count
n=1; median=76; range=76–76

Variant fields

mut_syn_HGVS
c.2130C>G
cdna_numb_HGVS
2130
cdna_numb_legacy
2130
nt_change
C>G
n_bp
1
nuc_numb
2130
g_numb
g16
aa_numb_HGVS
710
aa_numb_legacy
710
aa_first
Cys
aa_last
Trp
aa_syn
p.Cys710Trp
codon_first
TGC
codon_last
TGG
coordinate_GRCh38
133442639
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
34

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
308 98 65 34 cTTP compound_heterozygous China female 2 10 <2.5 76 no none nifedipine, dypyridamole, coated aldehyde oxystarch capsules