Variant detail

mut_id 136 · c.3230A>C · p.His1077Pro

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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 1077 AlphaMissense key H1077P
HGVS
c.3230A>C
Protein change
p.His1077Pro
GRCh38 coordinate
133454600
Location
exon 24
Domain
TSP type-1 8
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
H → P at 1077
AlphaMissense score
0.2449
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophobic
Charge
postive → neutral
Polarity
polar → nonpolar
Size
large → medium
Residue type
aromatic/basic → Unknown
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.2 → -1.6
Molecular weight
155.2 → 115.1
Original residue details
H · histidine
code: His
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: aromatic/basic
Variant residue details
P · proline
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
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 1077 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 8
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.3230A>C
cdna_numb_HGVS
3230
cdna_numb_legacy
3230
nt_change
A>C
n_bp
1
nuc_numb
3230
g_numb
g16
aa_numb_HGVS
1077
aa_numb_legacy
1077
aa_first
His
aa_last
Pro
aa_syn
p.His1077Pro
codon_first
CAT
codon_last
CCT
coordinate_GRCh38
133454600
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
317

Patients linked by mut_id

No linked patients found.