Variant detail

mut_id 294 · c.788C>T · p.Ser263Phe

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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 263 AlphaMissense key S263F
HGVS
c.788C>T
Protein change
p.Ser263Phe
Location
exon 7
gnomAD AF
0.00000220
Domain
Metalloprotease
Gene
ADAMTS13

References

Successful treatment of congenital TTP with a novel approach using plasma-derived factor VIII
Authors: Naik S, Mahoney DH.
Source: J Pediatr Hematol Oncol (2013)
Citation: J Pediatr Hematol Oncol. 2013 Oct;35(7):551-3. doi: 10.1097/MPH.0b013e3182755c38.
PubMed: 23128332 · DOI: 10.1097/MPH.0b013e3182755c38

Amino-acid property change

Residue substitution
S → F at 263
AlphaMissense score
0.9609
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
small → large
Residue type
Unknown → aromatic
Typical protein position
surface → buried
Hydropathy index
-0.8 → 2.8
Molecular weight
105.0 → 165.2
Original residue details
S · serine
code: Ser
hydro: hydrophilic
charge: neutral
polarity: polar
size: small
type:
Variant residue details
F · phenylalanine
code: Phe
hydro: hydrophobic
charge: neutral
polarity: nonpolar
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 263 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Italy (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
infection (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=6; range=6–6
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
Not available
Platelet count
n=1; median=5; range=5–5

Variant fields

mut_syn_HGVS
c.788C>T
cdna_numb_HGVS
788
cdna_numb_legacy
788
nt_change
C>T
n_bp
1
nuc_numb
788
g_numb
g16
aa_numb_HGVS
263
aa_numb_legacy
263
aa_first
Ser
aa_last
Phe
aa_syn
p.Ser263Phe
codon_first
TCC
codon_last
TTC
gnomAD_AC
3
gnomAD_AN
1385824
gnomAD_AF
0.00000220
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
134

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
120 294 138 134 cTTP compound_heterozygous Italy male 1 unknown <6 5 no infection PI