Variant detail

mut_id 22 · c.496G>A · p.Asp166Asn

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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 Residue 166 AlphaMissense key D166N
HGVS
c.496G>A
Protein change
p.Asp166Asn
rsID
rs781825239
GRCh38 coordinate
133426019
Location
exon 5
gnomAD AF
0.00001797
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP gnomAD

References

Atypical thrombotic thrombocytopenic purpura in a middle-aged woman who presented with a recurrent stroke
Authors: Idowu M, Reddy P.
Source: Am J Hematol (2013)
Citation: Am J Hematol. 2013 Mar;88(3):237-9. doi: 10.1002/ajh.23249. Epub 2012 May 28.
PubMed: 22641399 · DOI: 10.1002/ajh.23249

Amino-acid property change

Residue substitution
D → N at 166
AlphaMissense score
0.1911
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
negative → neutral
Polarity
polar → polar (unchanged)
Size
medium → medium (unchanged)
Residue type
acidic → Unknown
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -3.5 (unchanged)
Molecular weight
133.1 → 132.1
Original residue details
D · aspartic acid
code: Asp
hydro: hydrophilic
charge: negative
polarity: polar
size: medium
type: acidic
Variant residue details
N · asparagine
code: Asn
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
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 166 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Turkey (1)
Phenotype
cTTP (1)
Zygosity
homozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=8.7; range=8.7–8.7
Age of onset
Not available
Age of diagnosis
n=1; median=12; range=12–12
Platelet count
n=1; median=10; range=10–10

Variant fields

mut_syn_HGVS
c.496G>A
cdna_numb_HGVS
496
cdna_numb_legacy
496
nt_change
G>A
n_bp
1
nuc_numb
496
g_numb
g16
aa_numb_HGVS
166
aa_numb_legacy
166
aa_first
Asp
aa_last
Asn
aa_syn
p.Asp166Asn
codon_first
GAC
codon_last
AAC
coordinate_GRCh38
133426019
gnomAD_AC
29
gnomAD_AN
1614020
gnomAD_AF
0.00001797
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
293

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
261 22 . 293 cTTP homozygous Turkey male unknown 12 8.7 10 no none PI