Variant detail

mut_id 156 · c.3923G>A · p.Gly1308Asp

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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 1308 AlphaMissense key G1308D
HGVS
c.3923G>A
Protein change
p.Gly1308Asp
Location
exon 28
Domain
CUB 2
Gene
ADAMTS13

References

New mutation found to cause hereditary thrombotic thrombocytopenic purpura in a patient presenting with seizures in adulthood
Authors: Elbaz C, Sholzberg M, Hanif H, Bonnefoy A, Pavenski K.
Source: Platelets (2020)
Citation: Platelets. 2020 Nov 16;31(8):1094-1096. doi: 10.1080/09537104.2020.1732327. Epub 2020 Feb 27.
PubMed: 32103696 · DOI: 10.1080/09537104.2020.1732327

Amino-acid property change

Residue substitution
G → D at 1308
AlphaMissense score
0.6438
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 1308 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: CUB 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
pregnancy (1)
Treatment
unknown (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.3923G>A
cdna_numb_HGVS
3923
cdna_numb_legacy
3923
nt_change
G>A
n_bp
1
nuc_numb
3923
g_numb
g16
aa_numb_HGVS
1308
aa_numb_legacy
1308
aa_first
Gly
aa_last
Asp
aa_syn
p.Gly1308Asp
codon_first
GGT
codon_last
GAT
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
61

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
25 156 218 61 cTTP compound_heterozygous China female 31 31 <3 unknown no pregnancy unknown