Variant detail

mut_id 41 · c.794G>A · p.Cys265Tyr

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Evidence at a glance

0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point missense_variant Residue 265 AlphaMissense key C265Y
HGVS
c.794G>A
Protein change
p.Cys265Tyr
GRCh38 coordinate
133428741
Location
exon 7
gnomAD AF
7.37E-07
Domain
Metalloprotease
Gene
ADAMTS13

External links

gnomAD

References

Genotype–Phenotype Variability in Congenital Thrombotic Thrombocytopenic Purpura (TTP): Two Novel ADAMTS13 Variants
Authors: Radhakrishnan N, Pandharipande A S, Gaire H, et al.
Source: Cureus (2025)
Citation: Cureus 17(11): e97714
PubMed: 41458739 · DOI: 10.7759/cureus.97714

Amino-acid property change

Residue substitution
C → Y at 265
AlphaMissense score
0.9300
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 265 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.794G>A
cdna_numb_HGVS
794
cdna_numb_legacy
794
nt_change
G>A
n_bp
1
nuc_numb
794
g_numb
g16
aa_numb_HGVS
265
aa_numb_legacy
265
aa_first
Cys
aa_last
Tyr
aa_syn
p.Cys265Tyr
codon_first
TGC
codon_last
TAC
coordinate_GRCh38
133428741
gnomAD_AC
1
gnomAD_AN
1357094
gnomAD_AF
7.37E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
319

Patients linked by mut_id

No linked patients found.