Variant detail

mut_id 295 · c.796A>T · p.Ser266Cys

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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
compound_heterozygous (1)
Common zygosity

Summary

Point missense_variant Residue 266 AlphaMissense key S266C
HGVS
c.796A>T
Protein change
p.Ser266Cys
Location
exon 7
gnomAD AF
0.00000295
Domain
Metalloprotease
Gene
ADAMTS13

References

Remission of thrombotic thrombocytopenic purpura in a patient with compound heterozygous deficiency of von Willebrand factor-cleaving protease by infusion of solvent/detergent plasma
Authors: Kentouche K, Budde U, Furlan M, Scharfe V, Schneppenheim R, Zintl F.
Source: Acta Paediatr (2002)
Citation: Acta Paediatr. 2002;91(10):1056-9. doi: 10.1080/080352502760311548.
PubMed: 12434890 · DOI: 10.1080/080352502760311548

Amino-acid property change

Residue substitution
S → C at 266
AlphaMissense score
0.9115
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
small → medium
Residue type
Not available
Typical protein position
surface → buried
Hydropathy index
-0.8 → 2.5
Molecular weight
105.0 → 121.2
Original residue details
S · serine
code: Ser
hydro: hydrophilic
charge: neutral
polarity: polar
size: small
type:
Variant residue details
C · cysteine
code: Cys
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 266 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Germany (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
unknown (1)
Pregnancy-related
unknown (1)
Triggers
none (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.796A>T
cdna_numb_HGVS
796
cdna_numb_legacy
796
nt_change
A>T
n_bp
1
nuc_numb
796
g_numb
g16
aa_numb_HGVS
266
aa_numb_legacy
266
aa_first
Ser
aa_last
Cys
aa_syn
p.Ser266Cys
codon_first
AGC
codon_last
TGC
gnomAD_AC
4
gnomAD_AN
1355842
gnomAD_AF
0.00000295
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
186, 332

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
341 295 273 186 cTTP compound_heterozygous Germany unknown <1 unknown <5 unknown unknown none unknown