Variant detail

mut_id 80 · c.1643G>T · p.Cys548Phe

Back Advanced search Full table

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 548 AlphaMissense key C548F
HGVS
c.1643G>T
Protein change
p.Cys548Phe
GRCh38 coordinate
133438304
Location
exon 14
Domain
Cysteine-rich
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 → F at 548
AlphaMissense score
0.9115
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 → 2.8
Molecular weight
121.2 → 165.2
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
F · phenylalanine
code: Phe
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 548 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Cysteine-rich
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.1643G>T
cdna_numb_HGVS
1643
cdna_numb_legacy
1643
nt_change
G>T
n_bp
1
nuc_numb
1643
g_numb
g16
aa_numb_HGVS
548
aa_numb_legacy
548
aa_first
Cys
aa_last
Phe
aa_syn
p.Cys548Phe
codon_first
TGT
codon_last
TTT
coordinate_GRCh38
133438304
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
76

Patients linked by mut_id

No linked patients found.