Variant detail

mut_id 302 · c.1039T>C · p.Cys347Arg

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Evidence at a glance

0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point missense_variant Residue 347 AlphaMissense key C347R
HGVS
c.1039T>C
Protein change
p.Cys347Arg
Location
exon 9
gnomAD AF
6.41E-07
Domain
Disintegrin
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

Amino-acid property change

Residue substitution
C → R at 347
AlphaMissense score
0.9516
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 347 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Disintegrin
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.1039T>C
cdna_numb_HGVS
1039
cdna_numb_legacy
1039
nt_change
T>C
n_bp
1
nuc_numb
1039
g_numb
g16
aa_numb_HGVS
347
aa_numb_legacy
347
aa_first
Cys
aa_last
Arg
aa_syn
p.Cys347Arg
codon_first
TGC
codon_last
CGC
gnomAD_AC
1
gnomAD_AN
1559254
gnomAD_AF
6.41E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71

Patients linked by mut_id

No linked patients found.