Variant detail

mut_id 99 · c.2137delC · p.Gln713ArgfsTer65

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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

Deletion frameshift_variant Residue 713 AlphaMissense key Q713R
HGVS
c.2137delC
Protein change
p.Gln713ArgfsTer65
GRCh38 coordinate
133442646
Location
exon 18
gnomAD AF
6.20E-07
Domain
TSP type-1 2
Gene
ADAMTS13

External links

gnomAD

References

The challenging follow-up of pregnancy in women with known thrombotic thrombocytopenic purpura: a single-center experience of a preemptive management protocol
Authors: Hamroun A, Prouteau C, Lenain R, Roger C, Bauters A, Zawadzki C, Subtil D, Gibier JB, Stichelbout M, Coppo P, Lionet A, Maanaoui M, Hazzan M, Provôt F.
Source: J Nephrol (2023)
Citation: J Nephrol. 2023 Dec;36(9):2519-2529. doi: 10.1007/s40620-023-01790-x. Epub 2023 Oct 11.
PubMed: 37816989 · DOI: 10.1007/s40620-023-01790-x

Amino-acid property change

Residue substitution
Q → R at 713
AlphaMissense score
0.0716
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → postive
Polarity
polar → polar (unchanged)
Size
large → large (unchanged)
Residue type
Unknown → basic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -4.5
Molecular weight
146.1 → 174.2
Original residue details
Q · glutamine
code: Gln
hydro: hydrophilic
charge: neutral
polarity: polar
size: large
type:
Variant residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic

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 713 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 2
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
China (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=33; range=33–33
Age of onset
n=1; median=22; range=22–22
Age of diagnosis
n=1; median=33; range=33–33
Platelet count
n=1; median=13; range=13–13

Variant fields

mut_syn_HGVS
c.2137delC
cdna_numb_HGVS
2137
cdna_numb_legacy
2137
nt_change
Deletion
n_bp
1
nuc_numb
2137
g_numb
g16
aa_numb_HGVS
713
aa_numb_legacy
713
aa_first
Gln
aa_last
Arg
aa_syn
p.Gln713ArgfsTer65
codon_first
CA
codon_last
C
coordinate_GRCh38
133442646
gnomAD_AC
1
gnomAD_AN
1613268
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
13

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
3 99 94 13 cTTP compound_heterozygous China female 22 33 33 13 yes pregnancy unknown