Variant detail

mut_id 59 · c.1297T>C · p.Cys433Arg

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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
compound_heterozygous (1)
Common zygosity

Summary

Point missense_variant Residue 433 AlphaMissense key C433R
HGVS
c.1297T>C
Protein change
p.Cys433Arg
GRCh38 coordinate
133433693
Location
exon 11
Domain
TSP type-1 1
Gene
ADAMTS13

External links

gnomAD

References

Genetic variations in complement factors in patients with congenital thrombotic thrombocytopenic purpura with renal insufficiency
Authors: Fan X, Kremer Hovinga JA, Shirotani-Ikejima H, Eura Y, Hirai H, Honda S, Kokame K, Taleghani MM, von Krogh AS, Yoshida Y, Fujimura Y, Lämmle B, Miyata T.
Source: Int J Hematol (2016)
Citation: Int J Hematol. 2016 Mar;103(3):283-91. doi: 10.1007/s12185-015-1933-7. Epub 2016 Feb 1.
PubMed: 26830967 · DOI: 10.1007/s12185-015-1933-7

Amino-acid property change

Residue substitution
C → R at 433
AlphaMissense score
0.9639
Likely pathogenic
CSV class: LPath
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 433 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 1
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
USA (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (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=19; range=19–19
Age of diagnosis
n=1; median=19; range=19–19
Platelet count
n=1; median=13; range=13–13

Variant fields

mut_syn_HGVS
c.1297T>C
cdna_numb_HGVS
1297
cdna_numb_legacy
1297
nt_change
T>C
n_bp
1
nuc_numb
1297
g_numb
g16
aa_numb_HGVS
433
aa_numb_legacy
433
aa_first
Cys
aa_last
Arg
aa_syn
p.Cys433Arg
codon_first
TGC
codon_last
CGC
coordinate_GRCh38
133433693
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
94

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
67 59 133 94 cTTP compound_heterozygous USA female 19 19 <5 13 yes pregnancy PI