Variant detail

mut_id 364 · c.3338G>A · p.Cys1113Tyr

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Evidence at a glance

1
Linked patients
1
Patient-variant records
0
Linked references
1
Countries reported
cTTP (1)
Common phenotype
homozygous (1)
Common zygosity

Summary

Point missense_variant Residue 1113 AlphaMissense key C1113Y
HGVS
c.3338G>A
Protein change
p.Cys1113Tyr
Location
exon 25
Domain
TSP type-1 8
Gene
ADAMTS13

References

No references linked via ref_id / all_references / reference.

Amino-acid property change

Residue substitution
C → Y at 1113
AlphaMissense score
0.9204
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
Unknown → aromatic
Typical protein position
buried → surface
Hydropathy index
2.5 → -1.3
Molecular weight
121.2 → 181.2
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
Y · tyrosine
code: Tyr
hydro: hydrophobic
charge: neutral
polarity: polar
size: large
type: aromatic

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 1113 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 8
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Tanzania (1)
Phenotype
cTTP (1)
Zygosity
homozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=21; range=21–21
Age of onset
n=1; median=34; range=34–34
Age of diagnosis
n=1; median=34; range=34–34
Platelet count
n=1; median=18; range=18–18

Variant fields

mut_syn_HGVS
c.3338G>A
cdna_numb_HGVS
3338
cdna_numb_legacy
3338
nt_change
G>A
n_bp
1
nuc_numb
3338
g_numb
g16
aa_numb_HGVS
1113
aa_numb_legacy
1113
aa_first
Cys
aa_last
Tyr
aa_syn
p.Cys1113Tyr
codon_first
TGC
codon_last
TAC
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
322

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
274 364 . 322 cTTP homozygous Tanzania female 34 34 21 18 yes pregnancy PI