Variant detail

mut_id 340 · c.2293C>T · p.Arg765Trp

Back Advanced search Full table

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 Residue 765 AlphaMissense key R765W
HGVS
c.2293C>T
Protein change
p.Arg765Trp
rsID
rs782614158
Location
exon 19
gnomAD AF
0.00001379
Domain
TSP type-1 3
Gene
ADAMTS13

External links

dbSNP

References

Thrombotic thrombocytopenic purpura masquerading as preclampsia with severe features at 13 weeks' gestation
Authors: Avery EJ, Kenney SP, Byers BD, McIntosh JJ, Hoover C, Jiang Y, Xia L, Yu Z, George JN
Source: Am J Hematol. (2020)
Citation: Am J Hematol. 2020 Oct;95(10):1216-1220. doi: 10.1002/ajh.25914. Epub 2020 Aug 12
PubMed: 32602158 · DOI: 10.1002/ajh.25914.

Amino-acid property change

Residue substitution
R → W at 765
AlphaMissense score
0.2869
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophobic
Charge
postive → neutral
Polarity
polar → nonpolar
Size
large → large (unchanged)
Residue type
basic → aromatic
Typical protein position
surface → buried
Hydropathy index
-4.5 → -0.9
Molecular weight
174.2 → 204.2
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
W · tryptophan
code: Trp
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aromatic

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 765 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 3
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Ecuadorian (1)
Phenotype
cTTP (1)
Zygosity
homozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=9; range=9–9
Age of onset
n=1; median=30; range=30–30
Age of diagnosis
n=1; median=39; range=39–39
Platelet count
n=1; median=19; range=19–19

Variant fields

mut_syn_HGVS
c.2293C>T
cdna_numb_HGVS
2293
cdna_numb_legacy
2293
nt_change
C>T
n_bp
1
nuc_numb
2293
g_numb
g16
aa_numb_HGVS
765
aa_numb_legacy
765
aa_first
Arg
aa_last
Trp
aa_syn
p.Arg765Trp
codon_first
CGG
codon_last
TGG
gnomAD_AC
22
gnomAD_AN
1595152
gnomAD_AF
0.00001379
g_id
g16
g_name
ADAMTS13
comments
Uncertain significance
refState
complete
ref_id
300

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
258 340 . 300 cTTP homozygous Ecuadorian female 30 39 <9 19 yes pregnancy unknown