Variant detail

mut_id 328 · c.1973A>G · p.Tyr658Cys

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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 658 AlphaMissense key Y658C
HGVS
c.1973A>G
Protein change
p.Tyr658Cys
rsID
rs281875335
Location
exon 17
gnomAD AF
6.5694E-06
Domain
Spacer
Gene
ADAMTS13

External links

dbSNP

References

Paradigm shift of childhood thrombotic thrombocytopenic purpura with severe ADAMTS13 deficiency
Authors: Yagi H, Matsumoto M, Fujimura Y.
Source: Presse Med (2012)
Citation: Presse Med. 2012 Mar;41(3 Pt 2):e137-55. doi: 10.1016/j.lpm.2011.10.027. Epub 2012 Jan 20.
PubMed: 22264931 · DOI: 10.1016/j.lpm.2011.10.027

Amino-acid property change

Residue substitution
Y → C at 658
AlphaMissense score
0.5894
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 658 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Spacer
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Vietnam (1)
Phenotype
cTTP (1)
Zygosity
homozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=34; range=34–34
Age of diagnosis
n=1; median=34; range=34–34
Platelet count
n=1; median=12; range=12–12

Variant fields

mut_syn_HGVS
c.1973A>G
cdna_numb_HGVS
1973
cdna_numb_legacy
1973
nt_change
A>G
n_bp
1
nuc_numb
1973
g_numb
g16
aa_numb_HGVS
658
aa_numb_legacy
658
aa_first
Tyr
aa_last
Cys
aa_syn
p.Tyr658Cys
codon_first
TAC
codon_last
TGC
gnomAD_AC
1
gnomAD_AN
1613820
gnomAD_AF
6.5694E-06
g_id
g16
g_name
ADAMTS13
comments
not provided
refState
complete
ref_id
143

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
125 328 . 143 cTTP homozygous Vietnam female 34 34 <5 12 yes pregnancy PI