Variant detail

mut_id 1 · c.22dupG · p.Ala8GlyfsTer131

Back Advanced search Full table

Evidence at a glance

0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Duplication frameshift_variant Pathogenic/Likely pathogenic Residue 8 AlphaMissense key A8G
HGVS
c.22dupG
Protein change
p.Ala8GlyfsTer131
ClinVar ID
2815335
GRCh38 coordinate
133422462
Location
exon 1
gnomAD AF
0.00000433
Domain
Signal peptide
Gene
ADAMTS13

External links

ClinVar gnomAD

References

A Rare Case of Thrombotic Thrombocytopenic Purpura Caused by Pancreatitis and Clopidogrel
Authors: Rawala MS, Naqvi STS, Khan MY, El Toukhy A.
Source: Am J Case Rep (2018)
Citation: Am J Case Rep. 2018 Oct 30;19:1288-1291. doi: 10.12659/AJCR.911679.
PubMed: 30374015 · DOI: 10.12659/AJCR.911679

Amino-acid property change

Residue substitution
A → G at 8
AlphaMissense score
0.0730
Likely benign
CSV class: LBen
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → polar
Size
small → small (unchanged)
Residue type
aliphatic → aliphatic (unchanged)
Typical protein position
buried → surface
Hydropathy index
1.8 → -0.4
Molecular weight
89.1 → 75.1
Original residue details
A · alanine
code: Ala
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: small
type: aliphatic
Variant residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic

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 8 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Signal peptide
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.22dupG
cdna_numb_HGVS
22
cdna_numb_legacy
22
nt_change
Duplication
n_bp
1
nuc_numb
22
g_numb
g16
aa_numb_HGVS
8
aa_numb_legacy
8
aa_first
Ala
aa_last
Gly
aa_syn
p.Ala8GlyfsTer131
codon_first
C
codon_last
CG
coordinate_GRCh38
133422462
gnomAD_AC
7
gnomAD_AN
1613842
gnomAD_AF
0.00000433
clinvar_id
2815335
clinvar_classification
Pathogenic/Likely pathogenic
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
76, 332

Patients linked by mut_id

No linked patients found.