Variant detail

mut_id 372 · c.2411G>A · p.Cys804Tyr

Back Advanced search Full table

Evidence at a glance

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

Summary

Point missense_variant Uncertain significance Residue 804 AlphaMissense key C804Y
HGVS
c.2411G>A
Protein change
p.Cys804Tyr
rsID
rs2130881785
ClinVar ID
1163036
GRCh38 coordinate
133443552
Location
exon 19
gnomAD AF
0.00000193
Domain
TSP type-1 3
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

No references linked via ref_id / all_references / reference.

Amino-acid property change

Residue substitution
C → Y at 804
AlphaMissense score
0.5899
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 804 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 3
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
China (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=18; range=18–18
Age of diagnosis
n=1; median=30; range=30–30
Platelet count
n=1; median=24; range=24–24

Variant fields

mut_syn_HGVS
c.2411G>A
cdna_numb_HGVS
2411
cdna_numb_legacy
2411
nt_change
G>A
n_bp
1
nuc_numb
2411
g_numb
g16
aa_numb_HGVS
804
aa_numb_legacy
804
aa_first
Cys
aa_last
Tyr
aa_syn
p.Cys804Tyr
codon_first
TGC
codon_last
TAC
coordinate_GRCh38
133443552
gnomAD_AC
3
gnomAD_AN
1552330
gnomAD_AF
0.00000193
clinvar_id
1163036
clinvar_classification
Uncertain significance
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
331

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
46 372 303 331 cTTP compound_heterozygous China female 18 30 <5 24 no none unknown