Variant detail

mut_id 322 · c.1709A>G · p.Tyr570Cys

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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
homozygous (1)
Common zygosity

Summary

Point missense_variant Residue 570 AlphaMissense key Y570C
HGVS
c.1709A>G
Protein change
p.Tyr570Cys
Location
exon 14
gnomAD AF
6.21E-07
Domain
Spacer
Gene
ADAMTS13

References

An unusual case of rapidly progressive hyperbilirubinemia
Authors: Thornton KM, Nyp MF, Music Aplenc L, Jones GL, Carpenter SL, Guest EM, Shapiro SM, Manimtim WM.
Source: Case Rep Pediatr (2013)
Citation: Case Rep Pediatr. 2013;2013:284029. doi: 10.1155/2013/284029. Epub 2013 Oct 29.
PubMed: 24288641 · DOI: 10.1155/2013/284029

Amino-acid property change

Residue substitution
Y → C at 570
AlphaMissense score
0.9433
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
large → medium
Residue type
aromatic → Unknown
Typical protein position
surface → buried
Hydropathy index
-1.3 → 2.5
Molecular weight
181.2 → 121.2
Original residue details
Y · tyrosine
code: Tyr
hydro: hydrophobic
charge: neutral
polarity: polar
size: large
type: aromatic
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 570 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Spacer
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Turkey (1)
Phenotype
cTTP (1)
Zygosity
homozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
unknown (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=6; range=6–6
Age of onset
n=1; median=10; range=10–10
Age of diagnosis
n=1; median=13; range=13–13
Platelet count
n=1; median=5; range=5–5

Variant fields

mut_syn_HGVS
c.1709A>G
cdna_numb_HGVS
1709
cdna_numb_legacy
1709
nt_change
A>G
n_bp
1
nuc_numb
1709
g_numb
g16
aa_numb_HGVS
570
aa_numb_legacy
570
aa_first
Tyr
aa_last
Cys
aa_syn
p.Tyr570Cys
codon_first
TAT
codon_last
TGT
gnomAD_AC
1
gnomAD_AN
1609496
gnomAD_AF
6.21E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
118

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
92 322 . 118 cTTP homozygous Turkey female 10 13 <6 5 no unknown PI