Variant detail

mut_id 90 · c.2012C>A · p.Pro671Gln

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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 671 AlphaMissense key P671Q
HGVS
c.2012C>A
Protein change
p.Pro671Gln
GRCh38 coordinate
133442442
Location
exon 17
Domain
Spacer
Gene
ADAMTS13

External links

gnomAD

References

Caplacizumab in a Case of Very Late Diagnosis of Congenital Thrombotic Thrombocytopenic Purpura, 05 October 2025, PREPRINT (Version 1) available at Research Square
Authors: Elisa Quinti, Laura Fasano, Chiara Lucarelli et al.
Source: 2025
DOI: 10.21203/rs.3.rs-7435341/v1

Amino-acid property change

Residue substitution
P → Q at 671
AlphaMissense score
0.8989
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → polar
Size
medium → large
Residue type
Not available
Typical protein position
surface → surface (unchanged)
Hydropathy index
-1.6 → -3.5
Molecular weight
115.1 → 146.1
Original residue details
P · proline
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
type:
Variant residue details
Q · glutamine
code: Gln
hydro: hydrophilic
charge: neutral
polarity: polar
size: large
type:

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

Patient summary

Countries represented
Argentina (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
infection (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=24; range=24–24
Age of diagnosis
n=1; median=24; range=24–24
Platelet count
n=1; median=48; range=48–48

Variant fields

mut_syn_HGVS
c.2012C>A
cdna_numb_HGVS
2012
cdna_numb_legacy
2012
nt_change
C>A
n_bp
1
nuc_numb
2012
g_numb
g16
aa_numb_HGVS
671
aa_numb_legacy
671
aa_first
Pro
aa_last
Gln
aa_syn
p.Pro671Gln
codon_first
CCA
codon_last
CAA
coordinate_GRCh38
133442442
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
318

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
289 90 214 318 cTTP compound_heterozygous Argentina female 24 24 <5 48 no infection PI