Variant detail

mut_id 23 · c.518A>G · p.Asp173Gly

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Evidence at a glance

2
Linked patients
2
Patient-variant records
1
Linked references
1
Countries reported
cTTP (2)
Common phenotype
homozygous (2)
Common zygosity

Summary

Point missense_variant Residue 173 AlphaMissense key D173G
HGVS
c.518A>G
Protein change
p.Asp173Gly
rsID
rs1554785165
GRCh38 coordinate
133426041
Location
exon 5
gnomAD AF
0.00000185
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP gnomAD

References

Congenital thrombotic thrombocytopenic purpura: Upshaw-Schulman syndrome: a cause of neonatal death and review of literature
Authors: Sharma D, Shastri S, Pandita A, Sharma P.
Source: J Matern Fetal Neonatal Med (2016)
Citation: J Matern Fetal Neonatal Med. 2016;29(12):1977-9. doi: 10.3109/14767058.2015.1071789. Epub 2015 Sep 12.
PubMed: 26365135 · DOI: 10.3109/14767058.2015.1071789

Amino-acid property change

Residue substitution
D → G at 173
AlphaMissense score
0.8918
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
negative → neutral
Polarity
polar → polar (unchanged)
Size
medium → small
Residue type
acidic → aliphatic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -0.4
Molecular weight
133.1 → 75.1
Original residue details
D · aspartic acid
code: Asp
hydro: hydrophilic
charge: negative
polarity: polar
size: medium
type: acidic
Variant residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic

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 173 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Romania (2)
Phenotype
cTTP (2)
Zygosity
homozygous (2)
Sex
male (2)
Pregnancy-related
no (2)
Triggers
none (1); unknown (1)
Treatment
PI (1); unknown (1)
ADAMTS13 activity
n=2; median=3; range=3–3
Age of onset
n=1; median=11; range=11–11
Age of diagnosis
n=2; median=17.5; range=13–22
Platelet count
n=1; median=11; range=11–11

Variant fields

mut_syn_HGVS
c.518A>G
cdna_numb_HGVS
518
cdna_numb_legacy
518
nt_change
A>G
n_bp
1
nuc_numb
518
g_numb
g16
aa_numb_HGVS
173
aa_numb_legacy
173
aa_first
Asp
aa_last
Gly
aa_syn
p.Asp173Gly
codon_first
GAC
codon_last
GGC
coordinate_GRCh38
133426041
gnomAD_AC
3
gnomAD_AN
1613980
gnomAD_AF
0.00000185
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
100

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
50 23 . 100 cTTP homozygous Romania male 11 13 <3 11 no none PI
51 23 . 100 cTTP homozygous Romania male unknown 22 <3 unknown no unknown unknown