Variant detail

mut_id 39 · c.788C>G · p.Ser263Cys

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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 S263C
HGVS
c.788C>G
Protein change
p.Ser263Cys
GRCh38 coordinate
133428734
Location
exon 7
Domain
Metalloprotease
Gene
ADAMTS13

External links

gnomAD

References

Novel homozygous ADAMTS13 mutation with neonatal presentation of congenital thrombotic thrombocytopenic purpura in two Indian origin babies
Authors: Debaditya Das, Ming Wei Lee, Shivani Dogra, Bikramjit Das, Joyce Lam, Sudip Sengupta, Rajat Bhattacharyya
Source: Pediatric Hematology Oncology Journal (2019)
Citation: Pediatric Hematology Oncology Journal, Valume 4, Issue 1, 2019. Pages 27-29, ISSN 2468-1245
DOI: 10.1016/j.phoj.2018.12.001

Amino-acid property change

Residue substitution
S → C at 263
AlphaMissense score
0.9610
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 263 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
male (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
on-demand PI (1)
ADAMTS13 activity
n=1; median=2; range=2–2
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.788C>G
cdna_numb_HGVS
788
cdna_numb_legacy
788
nt_change
C>G
n_bp
1
nuc_numb
788
g_numb
g16
aa_numb_HGVS
263
aa_numb_legacy
263
aa_first
Ser
aa_last
Cys
aa_syn
p.Ser263Cys
codon_first
TCC
codon_last
TGC
coordinate_GRCh38
133428734
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
305

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
245 39 272 305 cTTP compound_heterozygous Germany male <1 unknown <2 unknown no none on-demand PI