Variant detail

mut_id 280 · c.578G>A · p.Arg193Gln

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Evidence at a glance

2
Linked patients
2
Patient-variant records
2
Linked references
2
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (2)
Common zygosity

Summary

Point missense_variant Residue 193 AlphaMissense key R193Q
HGVS
c.578G>A
Protein change
p.Arg193Gln
rsID
rs782083669
GRCh38 coordinate
133426237
Location
exon 6
gnomAD AF
0.00001054
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP gnomAD

References

Recombinant ADAMTS13 for Hereditary Thrombotic Thrombocytopenic Purpura
Authors: Asmis LM, Serra A, Krafft A, Licht A, Leisinger E, Henschkowski-Serra J, Ganter MT, Hauptmann S, Tinguely M, Kremer Hovinga JA.
Source: N Engl J Med (2022)
Citation: N Engl J Med. 2022 Dec 22;387(25):2356-2361. doi: 10.1056/NEJMoa2211113.
PubMed: 36546627 · DOI: 10.1056/NEJMoa2211113
Two novel heterozygote missense mutations of the ADAMTS13 gene in a child with recurrent thrombotic thrombocytopenic purpura
Authors: Rossio R, Ferrari B, Cairo A, Mancini I, Pisapia G, Palazzo G, Peyvandi F.
Source: Blood Transfus (2013)
Citation: Blood Transfus. 2013 Apr;11(2):241-4. doi: 10.2450/2012.0029-12. Epub 2012 Sep 12.
PubMed: 23058857 · DOI: 10.2450/2012.0029-12

Amino-acid property change

Residue substitution
R → Q at 193
AlphaMissense score
0.2154
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 193 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Canada (1); Italy (1)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
female (2)
Pregnancy-related
yes (2)
Triggers
pregnancy (2)
Treatment
unknown (1); none (1)
ADAMTS13 activity
n=2; median=7.5; range=5–10
Age of onset
n=1; median=32; range=32–32
Age of diagnosis
n=2; median=32; range=32–32
Platelet count
n=2; median=27.5; range=13–42

Variant fields

mut_syn_HGVS
c.578G>A
cdna_numb_HGVS
578
cdna_numb_legacy
578
nt_change
G>A
n_bp
1
nuc_numb
578
g_numb
g16
aa_numb_HGVS
193
aa_numb_legacy
193
aa_first
Arg
aa_last
Gln
aa_syn
p.Arg193Gln
codon_first
CGG
codon_last
CAG
coordinate_GRCh38
133426237
gnomAD_AC
17
gnomAD_AN
1613304
gnomAD_AF
0.00001054
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
22, 135, 321

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
4 280 199 22 cTTP compound_heterozygous Canada female unknown 32 <5 13 yes pregnancy unknown
119 280 255 135 cTTP compound_heterozygous Italy female 32 32 <10 42 yes pregnancy none