Variant detail

mut_id 250 · c.3070T>C · p.Cys1024Arg

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Evidence at a glance

1
Linked patients
1
Patient-variant records
2
Linked references
1
Countries reported
cTTP (1)
Common phenotype
homozygous (1)
Common zygosity

Summary

Point missense_variant Residue 102 AlphaMissense key C102R
HGVS
c.3070T>C
Protein change
p.Cys1024Arg
Location
exon 24
gnomAD AF
6.20E-07
Domain
Metalloprotease
Gene
ADAMTS13

References

Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review
Authors: Beauvais D, Venditti L, Chassin O, Joly B, Ameri A, Boisseau P, Lambotte O, Coppo P, Veyradier A, Denier C.
Source: J Stroke Cerebrovasc Dis (2019)
Citation: J Stroke Cerebrovasc Dis. 2019 Jun;28(6):1537-1539. doi: 10.1016/j.jstrokecerebrovasdis.2019.03.011. Epub 2019 Mar 28.
PubMed: 30930238 · DOI: 10.1016/j.jstrokecerebrovasdis.2019.03.011
A new ADAMTS13 missense mutation (D1362V) in thrombotic thrombocytopenic purpura diagnosed during pregnancy
Authors: Calderazzo JC, Kempfer A, Powazniak Y, López IR, Sánchez-Luceros A, Woods AI, Lazzari MA.
Source: Thromb Haemost (2012)
Citation: Thromb Haemost. 2012 Aug;108(2):401-3. doi: 10.1160/TH11-11-0783. Epub 2012 May 25.
PubMed: 22627385 · DOI: 10.1160/TH11-11-0783

Amino-acid property change

Residue substitution
C → R at 102
AlphaMissense score
Not available
No local AlphaMissense row found for C102R.
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → postive
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
Unknown → basic
Typical protein position
buried → surface
Hydropathy index
2.5 → -4.5
Molecular weight
121.2 → 174.2
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic

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 102 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Japan (1)
Phenotype
cTTP (1)
Zygosity
homozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=3.4; range=3.4–3.4
Age of onset
n=1; median=63; range=63–63
Age of diagnosis
n=1; median=63; range=63–63
Platelet count
n=1; median=30; range=30–30

Variant fields

mut_syn_HGVS
c.3070T>C
cdna_numb_HGVS
3070
cdna_numb_legacy
3070
nt_change
T>C
n_bp
1
nuc_numb
3070
g_numb
g16
aa_numb_HGVS
102
aa_numb_legacy
102
aa_first
Cys
aa_last
Arg
aa_syn
p.Cys1024Arg
codon_first
TGT
codon_last
CGT
gnomAD_AC
1
gnomAD_AN
1613814
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 249

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
231 250 . 249 cTTP homozygous Japan male 63 63 3.4 30 no none PI