Variant detail

mut_id 20 · c.436A>T · p.Asn146Tyr

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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 Uncertain signiificance Residue 146 AlphaMissense key N146Y
HGVS
c.436A>T
Protein change
p.Asn146Tyr
rsID
rs888709549
ClinVar ID
1950377
GRCh38 coordinate
133425959
Location
exon 5
gnomAD AF
0.00000247
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

Characterization of autopsy findings including multivisceral glomeruloid vascular bodies in hereditary thrombotic thrombocytopenic purpura with two new variants in ADAMTS13 gene
Authors: Maragliano R, Perrot A, Loget P, Combescure C, Belhomme N, Faoucher M, Dubourg C, Fradin M, Collardeau-Frachon S
Source: Virchows Arch (2025)
Citation: Virchows Arch. 2025 Aug 4. doi: 10.1007/s00428-025-04200-8
PubMed: 40760196 · DOI: 10.1007/s00428-025-04200-8

Amino-acid property change

Residue substitution
N → Y at 146
AlphaMissense score
0.5296
Uncertain
CSV class: Amb
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
Unknown → aromatic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -1.3
Molecular weight
132.1 → 181.2
Original residue details
N · asparagine
code: Asn
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 146 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.436A>T
cdna_numb_HGVS
436
cdna_numb_legacy
436
nt_change
A>T
n_bp
1
nuc_numb
436
g_numb
g16
aa_numb_HGVS
146
aa_numb_legacy
146
aa_first
Asn
aa_last
Tyr
aa_syn
p.Asn146Tyr
codon_first
AAC
codon_last
TAC
coordinate_GRCh38
133425959
gnomAD_AC
4
gnomAD_AN
1613690
gnomAD_AF
0.00000247
clinvar_id
1950377
clinvar_classification
Uncertain signiificance
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
317

Patients linked by mut_id

No linked patients found.