Variant detail

mut_id 37 · c.725G>A · p.Cys242Tyr

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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 Conflicting classifications of pathogenicity Residue 242 AlphaMissense key C242Y
HGVS
c.725G>A
Protein change
p.Cys242Tyr
ClinVar ID
3254625
GRCh38 coordinate
133428672
Location
exon 7
gnomAD AF
7.35E-07
Domain
Metalloprotease
Gene
ADAMTS13

External links

ClinVar gnomAD

References

Novel ADAMTS13 Mutation in a Patient With Congenital TTP Diagnosed in Pregnancy
Authors: Mawalla WF, Chamba C, Nasser A, Jonathan I, Josephat E, Yonazi M, Yusuph Z, Bresin E, Remuzzi G, Luzzatto L
Source: Am J Hematol. (2025)
Citation: Am J Hematol. 2025 Jul 11. doi: 10.1002/ajh.70007
PubMed: 40643312 · DOI: 10.1002/ajh.70007

Amino-acid property change

Residue substitution
C → Y at 242
AlphaMissense score
0.9018
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
Unknown → aromatic
Typical protein position
buried → surface
Hydropathy index
2.5 → -1.3
Molecular weight
121.2 → 181.2
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
Y · tyrosine
code: Tyr
hydro: hydrophobic
charge: neutral
polarity: polar
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 242 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Australia (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=5.5; range=5.5–5.5
Age of onset
n=1; median=24; range=24–24
Age of diagnosis
n=1; median=24; range=24–24
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.725G>A
cdna_numb_HGVS
725
cdna_numb_legacy
725
nt_change
G>A
n_bp
1
nuc_numb
725
g_numb
g16
aa_numb_HGVS
242
aa_numb_legacy
242
aa_first
Cys
aa_last
Tyr
aa_syn
p.Cys242Tyr
codon_first
TGC
codon_last
TAC
coordinate_GRCh38
133428672
gnomAD_AC
1
gnomAD_AN
1360596
gnomAD_AF
7.35E-07
clinvar_id
3254625
clinvar_classification
Conflicting classifications of pathogenicity
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
314

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
286 37 133 314 cTTP compound_heterozygous Australia female 24 24 5.5 unknown yes pregnancy PI