Variant detail

mut_id 318 · c.1492C>T · p.Arg498Cys

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Evidence at a glance

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

Summary

Point missense_variant Residue 498 AlphaMissense key R498C
HGVS
c.1492C>T
Protein change
p.Arg498Cys
rsID
rs201457594
Location
exon 13
gnomAD AF
0.00001363
Domain
Cysteine-rich
Gene
ADAMTS13

External links

dbSNP

References

Pediatric thrombotic thrombocytopenic purpura
Authors: Joly BS, Coppo P, Veyradier A.
Source: Eur J Haematol (2018)
Citation: Eur J Haematol. 2018 Oct;101(4):425-434. doi: 10.1111/ejh.13107. Epub 2018 Aug 22.
PubMed: 29889319 · DOI: 10.1111/ejh.13107
ADAMTS13 and its variants promote angiogenesis via upregulation of VEGF and VEGFR2
Authors: Lee M, Keener J, Xiao J, Long Zheng X, Rodgers GM.
Source: Cell Mol Life Sci (2015)
Citation: Cell Mol Life Sci. 2015 Jan;72(2):349-56. doi: 10.1007/s00018-014-1667-3. Epub 2014 Jun 21.
PubMed: 24950743 · DOI: 10.1007/s00018-014-1667-3

Amino-acid property change

Residue substitution
R → C at 498
AlphaMissense score
0.7151
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
postive → neutral
Polarity
polar → polar (unchanged)
Size
large → medium
Residue type
basic → Unknown
Typical protein position
surface → buried
Hydropathy index
-4.5 → 2.5
Molecular weight
174.2 → 121.2
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
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 498 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Cysteine-rich
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Belgium (1); UK (1)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
male (1); female (1)
Pregnancy-related
no (1); yes (1)
Triggers
infection (1); pregnancy (1)
Treatment
PI (1); unknown (1)
ADAMTS13 activity
n=1; median=10; range=10–10
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=20; range=20–20
Platelet count
n=1; median=9; range=9–9

Variant fields

mut_syn_HGVS
c.1492C>T
cdna_numb_HGVS
1492
cdna_numb_legacy
1492
nt_change
C>T
n_bp
1
nuc_numb
1492
g_numb
g16
aa_numb_HGVS
498
aa_numb_legacy
498
aa_first
Arg
aa_last
Cys
aa_syn
p.Arg498Cys
codon_first
CGT
codon_last
TGT
gnomAD_AC
22
gnomAD_AN
1613958
gnomAD_AF
0.00001363
g_id
g16
g_name
ADAMTS13
comments
Likely pathogenic
refState
complete
ref_id
82, 239, 332

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
124 318 293 82 cTTP compound_heterozygous Belgium male 1 20 <10 9 no infection PI
182 318 133 239 cTTP compound_heterozygous UK female unknown unknown unknown unknown yes pregnancy unknown