Variant detail

mut_id 291 · c.724_729del · p.Cys242_Gly243del

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Evidence at a glance

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

Summary

Deletion Deletion Residue 242 AlphaMissense key C242G
HGVS
c.724_729del
Protein change
p.Cys242_Gly243del
Location
exon 7
gnomAD AF
0.00000297
Domain
Metalloprotease
Gene
ADAMTS13

References

No references linked via ref_id / all_references / reference.

Amino-acid property change

Residue substitution
C → G at 242
AlphaMissense score
0.6817
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
medium → small
Residue type
Unknown → aliphatic
Typical protein position
buried → surface
Hydropathy index
2.5 → -0.4
Molecular weight
121.2 → 75.1
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic

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 242 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.724_729del
cdna_numb_HGVS
724
cdna_numb_legacy
724
nt_change
Deletion
n_bp
6
nuc_numb
724
g_numb
g16
aa_numb_HGVS
242
aa_numb_legacy
242
aa_first
Cys
aa_last
Gly
aa_syn
p.Cys242_Gly243del
codon_first
AGCGGCT
codon_last
A
gnomAD_AC
4
gnomAD_AN
1344332
gnomAD_AF
0.00000297
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
332

Patients linked by mut_id

No linked patients found.