Variant detail

mut_id 142 · c.3390T>G · p.Cys1130Trp

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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 1130 AlphaMissense key C1130W
HGVS
c.3390T>G
Protein change
p.Cys1130Trp
GRCh38 coordinate
133455425
Location
exon 25
Domain
TSP type-1 8
Gene
ADAMTS13

External links

gnomAD

References

A Rare Case of Thrombotic Thrombocytopenic Purpura Caused by Pancreatitis and Clopidogrel
Authors: Rawala MS, Naqvi STS, Khan MY, El Toukhy A.
Source: Am J Case Rep (2018)
Citation: Am J Case Rep. 2018 Oct 30;19:1288-1291. doi: 10.12659/AJCR.911679.
PubMed: 30374015 · DOI: 10.12659/AJCR.911679

Amino-acid property change

Residue substitution
C → W at 1130
AlphaMissense score
0.7136
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
medium → large
Residue type
Unknown → aromatic
Typical protein position
buried → buried (unchanged)
Hydropathy index
2.5 → -0.9
Molecular weight
121.2 → 204.2
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
W · tryptophan
code: Trp
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aromatic

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 1130 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 8
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.3390T>G
cdna_numb_HGVS
3390
cdna_numb_legacy
3390
nt_change
T>G
n_bp
1
nuc_numb
3390
g_numb
g16
aa_numb_HGVS
1130
aa_numb_legacy
1130
aa_first
Cys
aa_last
Trp
aa_syn
p.Cys1130Trp
codon_first
TGT
codon_last
TGG
coordinate_GRCh38
133455425
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
76

Patients linked by mut_id

No linked patients found.