Variant detail

mut_id 104 · c.2351G>A · p.Arg784Gln

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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

Point missense_variant Uncertain signiificance Residue 784 AlphaMissense key R784Q
HGVS
c.2351G>A
Protein change
p.Arg784Gln
rsID
rs377187626
ClinVar ID
2715019
GRCh38 coordinate
133443492
Location
exon 19
gnomAD AF
0.00002961
Domain
TSP type-1 3
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

A successfully treated case of an acute presentation of congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) with decreased ADAMTS13 during late stage of pregnancy
Authors: Nonaka T, Yamaguchi M, Nishijima K, Moriyama M, Takakuwa K, Enomoto T.
Source: J Obstet Gynaecol Res (2021)
Citation: J Obstet Gynaecol Res. 2021 May;47(5):1892-1897. doi: 10.1111/jog.14737. Epub 2021 Mar 9.
PubMed: 33751717 · DOI: 10.1111/jog.14737

Amino-acid property change

Residue substitution
R → Q at 784
AlphaMissense score
0.0923
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
postive → neutral
Polarity
polar → polar (unchanged)
Size
large → large (unchanged)
Residue type
basic → Unknown
Typical protein position
surface → surface (unchanged)
Hydropathy index
-4.5 → -3.5
Molecular weight
174.2 → 146.1
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
Q · glutamine
code: Gln
hydro: hydrophilic
charge: neutral
polarity: polar
size: large
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 784 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 3
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Armenia (1)
Phenotype
cTTP (1)
Zygosity
homozygous (1)
Sex
unknown (1)
Pregnancy-related
no (1)
Triggers
infection (1)
Treatment
on-demand PI (1)
ADAMTS13 activity
n=1; median=3; range=3–3
Age of onset
n=1; median=43; range=43–43
Age of diagnosis
n=1; median=43; range=43–43
Platelet count
n=1; median=14; range=14–14

Variant fields

mut_syn_HGVS
c.2351G>A
cdna_numb_HGVS
2351
cdna_numb_legacy
2351
nt_change
G>A
n_bp
1
nuc_numb
2351
g_numb
g16
aa_numb_HGVS
784
aa_numb_legacy
784
aa_first
Arg
aa_last
Gln
aa_syn
p.Arg784Gln
codon_first
CGG
codon_last
CAG
coordinate_GRCh38
133443492
gnomAD_AC
47
gnomAD_AN
1587052
gnomAD_AF
0.00002961
clinvar_id
2715019
clinvar_classification
Uncertain signiificance
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
43

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
14 104 117 43 cTTP homozygous Armenia unknown 43 43 <3 14 no infection on-demand PI