Variant detail

mut_id 342 · c.2376_2401del · p.Ala793ProfsTer43

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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

Deletion frameshift_variant Residue 793 AlphaMissense key A793P
HGVS
c.2376_2401del
Protein change
p.Ala793ProfsTer43
rsID
rs387906342
Location
exon 19
gnomAD AF
6.34E-07
Domain
TSP type-1 3
Gene
ADAMTS13

External links

dbSNP

References

Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity
Authors: Kokame K, Matsumoto M, Soejima K, Yagi H, Ishizashi H, Funato M, Tamai H, Konno M, Kamide K, Kawano Y, Miyata T, Fujimura Y.
Source: Proc Natl Acad Sci U S A (2002)
Citation: Proc Natl Acad Sci U S A. 2002 Sep 3;99(18):11902-7. doi: 10.1073/pnas.172277399. Epub 2002 Aug 14.
PubMed: 12181489 · DOI: 10.1073/pnas.172277399

Amino-acid property change

Residue substitution
A → P at 793
AlphaMissense score
0.0805
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 793 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 3
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.2376_2401del
cdna_numb_HGVS
2376
cdna_numb_legacy
2376
nt_change
Deletion
n_bp
26
nuc_numb
2376
g_numb
g16
aa_numb_HGVS
793
aa_numb_legacy
793
aa_first
Ala
aa_last
Pro
aa_syn
p.Ala793ProfsTer43
codon_first
CCAGCTGTGGCGCTGGAAACCTGCAACC
gnomAD_AC
1
gnomAD_AN
1578458
gnomAD_AF
6.34E-07
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
188

Patients linked by mut_id

No linked patients found.