Variant detail

mut_id 258 · c.332G>A · p.Gly111Glu

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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
compound_heterozygous (1)
Common zygosity

Summary

Point missense_variant Residue 111 AlphaMissense key G111E
HGVS
c.332G>A
Protein change
p.Gly111Glu
Location
exon 4
gnomAD AF
6.20E-07
Domain
Metalloprotease
Gene
ADAMTS13

References

Neonate with Congenital Thrombotic Thrombocytopenic Purpura: a Case Report of a de novo Compound Heterozygote Mutation in ADAMTS13 Gene and Review of Literature
Authors: Lv H, Wang Z, Yang L, Wang S, Wang Q, Ren P, Li L.
Source: Clin Lab (2020)
Citation: Clin Lab. 2020 Apr 1;66(4). doi: 10.7754/Clin.Lab.2019.190715.
PubMed: 32255295 · DOI: 10.7754/Clin.Lab.2019.190715

Amino-acid property change

Residue substitution
G → E at 111
AlphaMissense score
0.9355
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → negative
Polarity
polar → polar (unchanged)
Size
small → large
Residue type
aliphatic → acidic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-0.4 → -3.5
Molecular weight
75.1 → 147.1
Original residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic
Variant residue details
E · glutamic acid
code: Glu
hydro: hydrophilic
charge: negative
polarity: polar
size: large
type: acidic

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 111 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
China (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
infection (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=5.7; range=5.7–5.7
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=5; range=5–5
Platelet count
n=1; median=34; range=34–34

Variant fields

mut_syn_HGVS
c.332G>A
cdna_numb_HGVS
332
cdna_numb_legacy
332
nt_change
G>A
n_bp
1
nuc_numb
332
g_numb
g16
aa_numb_HGVS
111
aa_numb_legacy
111
aa_first
Gly
aa_last
Glu
aa_syn
p.Gly111Glu
codon_first
GGG
codon_last
GAG
gnomAD_AC
1
gnomAD_AN
1613014
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
59

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
23 258 251 59 cTTP compound_heterozygous China male <1 5 5.7 34 no infection PI