Variant detail

mut_id 146 · c.3550G>T · p.Asp1184Tyr

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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 1184 AlphaMissense key D1184Y
HGVS
c.3550G>T
Protein change
p.Asp1184Tyr
GRCh38 coordinate
133456545
Location
exon 27
Domain
Inter-domain / unassigned region
Gene
ADAMTS13

External links

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
D → Y at 1184
AlphaMissense score
Not available
No local AlphaMissense row found for D1184Y.
Hydrophobicity
hydrophilic → hydrophobic
Charge
negative → neutral
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
acidic → aromatic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -1.3
Molecular weight
133.1 → 181.2
Original residue details
D · aspartic acid
code: Asp
hydro: hydrophilic
charge: negative
polarity: polar
size: medium
type: acidic
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 1184 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Inter-domain / unassigned region
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.3550G>T
cdna_numb_HGVS
3550
cdna_numb_legacy
3550
nt_change
G>T
n_bp
1
nuc_numb
3550
g_numb
g16
aa_numb_HGVS
1184
aa_numb_legacy
1184
aa_first
Asp
aa_last
Tyr
aa_syn
p.Asp1184Tyr
codon_first
GAC
codon_last
TAC
coordinate_GRCh38
133456545
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
317

Patients linked by mut_id

No linked patients found.