Variant detail

mut_id 327 · c.1922delA · p.Glu641GlyfsTer57

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Evidence at a glance

1
Linked patients
1
Patient-variant records
1
Linked references
1
Countries reported
cTTP (1)
Common phenotype
homozygous (1)
Common zygosity

Summary

Deletion frameshift_variant Residue 641 AlphaMissense key E641G
HGVS
c.1922delA
Protein change
p.Glu641GlyfsTer57
Location
exon 16
gnomAD AF
6.20E-07
Domain
Spacer
Gene
ADAMTS13

References

[Variety of thrombotic thrombocytopenic purpura clinical course in Polish family members with ADAMTS 13 gene mutation]
Authors: Hyla-Klekot L, Kucharska G, Słonka K.
Source: Pol Merkur Lekarski (2013)
Citation: Pol Merkur Lekarski. 2013 Mar;34(201):161-4.
PubMed: 23700827

Amino-acid property change

Residue substitution
E → G at 641
AlphaMissense score
0.8700
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
negative → neutral
Polarity
polar → polar (unchanged)
Size
large → small
Residue type
acidic → aliphatic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -0.4
Molecular weight
147.1 → 75.1
Original residue details
E · glutamic acid
code: Glu
hydro: hydrophilic
charge: negative
polarity: polar
size: large
type: acidic
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 641 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Spacer
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Saudi Arabia (1)
Phenotype
cTTP (1)
Zygosity
homozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
unknown (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=4; range=4–4
Platelet count
n=1; median=18; range=18–18

Variant fields

mut_syn_HGVS
c.1922delA
cdna_numb_HGVS
1922
cdna_numb_legacy
1922
nt_change
Deletion
n_bp
1
nuc_numb
1922
g_numb
g16
aa_numb_HGVS
641
aa_numb_legacy
641
aa_first
Glu
aa_last
Gly
aa_syn
p.Glu641GlyfsTer57
gnomAD_AC
1
gnomAD_AN
1613022
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
126

Patients linked by mut_id

patient_id mut_id compound_partner_mut_id ref_id phenotype zygosity country sex age_of_onset age_of_diagnosis ad13_activity platelet_count pregnancy_related triggers treatment
115 327 . 126 cTTP homozygous Saudi Arabia female <1 4 <5 18 no unknown PI