Variant detail
mut_id 160 · c.4101dupG · p.Thr1368Aspfs*20
Evidence at a glance
0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity
Summary
Duplication Duplication Residue 1368 AlphaMissense key T1368D
HGVS
c.4101dupG
Protein change
p.Thr1368Aspfs*20
Location
exon 29
Domain
CUB 2
Gene
ADAMTS13
References
NEPHRO-ZEBRA-a neonate with severe jaundice, persistent thrombocytopenia & recurrent acute kidney injury later in childhood: Joining the dots!
Amino-acid property change
Residue substitution
T → D at 1368
AlphaMissense score
0.3224
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → negative
Polarity
polar → polar (unchanged)
Size
medium → medium (unchanged)
Residue type
Unknown → acidic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-0.7 → -3.5
Molecular weight
119.1 → 133.1
Original 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:
Variant residue details
D
· aspartic acid
code: Asp
hydro: hydrophilic
charge: negative
polarity: polar
size: medium
type: acidic
code: Asp
hydro: hydrophilic
charge: negative
polarity: polar
size: medium
type: acidic
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 1368 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: CUB 2
Domain colours match the homepage domain viewer.
Patient summary
No linked patients found for this variant.
Variant fields
mut_syn_HGVS
c.4101dupG
cdna_numb_HGVS
4101
cdna_numb_legacy
4101
nt_change
Duplication
nuc_numb
4101
g_numb
g16
aa_numb_HGVS
1368
aa_numb_legacy
1368
aa_first
Thr
aa_last
Asp
aa_syn
p.Thr1368Aspfs*20
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
7
Patients linked by mut_id
No linked patients found.