Variant detail

mut_id 127 · c.3033delC · p.Cys1012AlafsX109

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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

Deletion Deletion Residue 1012 AlphaMissense key C1012A
HGVS
c.3033delC
Protein change
p.Cys1012AlafsX109
GRCh38 coordinate
133449954
Location
exon 23
Domain
TSP type-1 7
Gene
ADAMTS13

External links

gnomAD

References

Unfolding the pathophysiology of congenital thrombotic thrombocytopenic purpura in pregnancy: lessons from a cluster of familial cases
Authors: Miodownik S, Pikovsky O, Erez O, Kezerle Y, Lavon O, Rabinovich A.
Source: Am J Obstet Gynecol (2021)
Citation: Am J Obstet Gynecol. 2021 Aug;225(2):177.e1-177.e15. doi: 10.1016/j.ajog.2021.02.018. Epub 2021 Feb 20.
PubMed: 33621545 · DOI: 10.1016/j.ajog.2021.02.018

Amino-acid property change

Residue substitution
C → A at 1012
AlphaMissense score
0.8682
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
medium → small
Residue type
Unknown → aliphatic
Typical protein position
buried → buried (unchanged)
Hydropathy index
2.5 → 1.8
Molecular weight
121.2 → 89.1
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
A · alanine
code: Ala
hydro: hydrophobic
charge: neutral
polarity: nonpolar
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 1012 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 7
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Pakistan (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=10; range=10–10
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=8; range=8–8
Platelet count
n=1; median=27; range=27–27

Variant fields

mut_syn_HGVS
c.3033delC
cdna_numb_HGVS
3033
cdna_numb_legacy
3033
nt_change
Deletion
n_bp
1
nuc_numb
3033
g_numb
g16
aa_numb_HGVS
1012
aa_numb_legacy
1012
aa_first
Cys
aa_last
Ala
aa_syn
p.Cys1012AlafsX109
coordinate_GRCh38
133449954
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
45

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
15 127 . 45 cTTP homozygous Pakistan male <1 8 <10 27 no none PI