Variant detail
mut_id 30 · c.665T>C · p.Ile222Thr
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 222 AlphaMissense key I222T
HGVS
c.665T>C
Protein change
p.Ile222Thr
GRCh38 coordinate
133426324
Location
exon 6
Domain
Metalloprotease
Gene
ADAMTS13
External links
References
Two cases of congenital thrombotic thrombocytopenicpurpura associated with pregnancy
Amino-acid property change
Residue substitution
I → T at 222
AlphaMissense score
0.6654
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → polar
Size
large → medium
Residue type
aliphatic → Unknown
Typical protein position
buried → surface
Hydropathy index
4.5 → -0.7
Molecular weight
131.2 → 119.1
Original residue details
I
· isoleucine
code: Ile
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aliphatic
code: Ile
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aliphatic
Variant residue details
T
· threonine
code: Thr
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
code: Thr
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
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 222 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.665T>C
cdna_numb_HGVS
665
cdna_numb_legacy
665
nt_change
T>C
n_bp
1
nuc_numb
665
g_numb
g16
aa_numb_HGVS
222
aa_numb_legacy
222
aa_first
Ile
aa_last
Thr
aa_syn
p.Ile222Thr
codon_first
ATT
codon_last
ACT
coordinate_GRCh38
133426324
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
312
Patients linked by mut_id
No linked patients found.