Variant detail

mut_id 369 · c.1519C>T · p.Arg507Trp

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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 507 AlphaMissense key R507W
HGVS
c.1519C>T
Protein change
p.Arg507Trp
rsID
rs909831139
GRCh38 coordinate
133437832
Location
exon 13
gnomAD AF
0.00000433
Domain
Cysteine-rich
Gene
ADAMTS13

External links

dbSNP gnomAD

References

No references linked via ref_id / all_references / reference.

Amino-acid property change

Residue substitution
R → W at 507
AlphaMissense score
0.3587
Uncertain
CSV class: Amb
Hydrophobicity
hydrophilic → hydrophobic
Charge
postive → neutral
Polarity
polar → nonpolar
Size
large → large (unchanged)
Residue type
basic → aromatic
Typical protein position
surface → buried
Hydropathy index
-4.5 → -0.9
Molecular weight
174.2 → 204.2
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
W · tryptophan
code: Trp
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 507 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Cysteine-rich
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
India (1)
Phenotype
cTTP (1)
Zygosity
homozygous (1)
Sex
unknown (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
none (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=1; range=1–1
Platelet count
n=1; median=11; range=11–11

Variant fields

mut_syn_HGVS
c.1519C>T
cdna_numb_HGVS
1519
cdna_numb_legacy
1519
nt_change
C>T
n_bp
1
nuc_numb
1519
g_numb
g16
aa_numb_HGVS
507
aa_numb_legacy
507
aa_first
Arg
aa_last
Trp
aa_syn
p.Arg507Trp
codon_first
CGG
codon_last
TGG
coordinate_GRCh38
133437832
gnomAD_AC
7
gnomAD_AN
1613928
gnomAD_AF
0.00000433
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
328

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
280 369 . 328 cTTP homozygous India unknown <1 <1 <5 11 no none none