Variant detail

mut_id 129 · c.3092G>A · p.Gly1031Asp

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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

Point missense_variant Residue 1031 AlphaMissense key G1031D
HGVS
c.3092G>A
Protein change
p.Gly1031Asp
GRCh38 coordinate
133454462
Location
exon 24
Domain
TSP type-1 7
Gene
ADAMTS13

External links

gnomAD

References

ADAMTS13 Gene Mutations Influence ADAMTS13 Conformation and Disease Age-Onset in the French Cohort of Upshaw-Schulman Syndrome
Authors: Joly BS, Boisseau P, Roose E, Stepanian A, Biebuyck N, Hogan J, Provot F, Delmas Y, Garrec C, Vanhoorelbeke K, Coppo P, Veyradier A; French Reference Center for Thrombotic Microangiopathies.
Source: Thromb Haemost (2018)
Citation: Thromb Haemost. 2018 Nov;118(11):1902-1917. doi: 10.1055/s-0038-1673686. Epub 2018 Oct 12.
PubMed: 30312976 · DOI: 10.1055/s-0038-1673686
Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China
Authors: Zhang L, Yu J, Xian Y, Wen X, Guan X, Guo Y, Luo M, Dou Y.
Source: J Clin Lab Anal (2021)
Citation: J Clin Lab Anal. 2021 Aug;35(8):e23896. doi: 10.1002/jcla.23896. Epub 2021 Jul 8.
PubMed: 34237177 · DOI: 10.1002/jcla.23896

Amino-acid property change

Residue substitution
G → D at 1031
AlphaMissense score
0.7288
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → negative
Polarity
polar → polar (unchanged)
Size
small → medium
Residue type
aliphatic → acidic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-0.4 → -3.5
Molecular weight
75.1 → 133.1
Original residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic
Variant residue details
D · aspartic acid
code: Asp
hydro: hydrophilic
charge: negative
polarity: polar
size: medium
type: acidic

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 1031 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 7
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Japan (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
PI (1)
ADAMTS13 activity
Not available
Age of onset
n=1; median=25; range=25–25
Age of diagnosis
n=1; median=40; range=40–40
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.3092G>A
cdna_numb_HGVS
3092
cdna_numb_legacy
3092
nt_change
G>A
n_bp
1
nuc_numb
3092
g_numb
g16
aa_numb_HGVS
1031
aa_numb_legacy
1031
aa_first
Gly
aa_last
Asp
aa_syn
p.Gly1031Asp
codon_first
GGC
codon_last
GAC
coordinate_GRCh38
133454462
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
77, 205

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
340 129 208 77 cTTP compound_heterozygous Japan male 25 40 unknown no none PI