Variant detail

mut_id 111 · c.2677G>C · p.Ala893Pro

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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 893 AlphaMissense key A893P
HGVS
c.2677G>C
Protein change
p.Ala893Pro
rsID
rs1311406038
GRCh38 coordinate
133445765
Location
exon 21
gnomAD AF
0.00000342
Domain
Inter-domain / unassigned region
Gene
ADAMTS13

External links

dbSNP 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
A → P at 893
AlphaMissense score
0.0901
Likely benign
CSV class: LBen
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → nonpolar (unchanged)
Size
small → medium
Residue type
aliphatic → Unknown
Typical protein position
buried → surface
Hydropathy index
1.8 → -1.6
Molecular weight
89.1 → 115.1
Original residue details
A · alanine
code: Ala
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: small
type: aliphatic
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 893 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.2677G>C
cdna_numb_HGVS
2677
cdna_numb_legacy
2677
nt_change
G>C
n_bp
1
nuc_numb
2677
g_numb
g16
aa_numb_HGVS
893
aa_numb_legacy
893
aa_first
Ala
aa_last
Pro
aa_syn
p.Ala893Pro
codon_first
GCT
codon_last
CCT
coordinate_GRCh38
133445765
gnomAD_AC
6
gnomAD_AN
160924
gnomAD_AF
0.00000342
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
317

Patients linked by mut_id

No linked patients found.