Variant detail
mut_id 97 · c.2107T>C · p.Leu703Pro
Evidence at a glance
0
Linked patients
0
Patient-variant records
0
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity
Summary
Point missense_variant Residue 703 AlphaMissense key L703P
HGVS
c.2107T>C
Protein change
p.Leu703Pro
GRCh38 coordinate
133442617
Location
exon 18
gnomAD AF
0.00000124
Domain
TSP type-1 2
Gene
ADAMTS13
External links
References
No references linked via ref_id / all_references / reference.
Amino-acid property change
Residue substitution
L → P at 703
AlphaMissense score
0.3150
Likely benign
CSV class: LBen
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → nonpolar (unchanged)
Size
large → medium
Residue type
aliphatic → Unknown
Typical protein position
buried → surface
Hydropathy index
3.8 → -1.6
Molecular weight
131.2 → 115.1
Original residue details
L
· leucine
code: Leu
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aliphatic
code: Leu
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aliphatic
Variant residue details
P
· proline
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
type:
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
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 703 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 2
Domain colours match the homepage domain viewer.
Patient summary
No linked patients found for this variant.
Variant fields
mut_syn_HGVS
c.2107T>C
cdna_numb_HGVS
2107
cdna_numb_legacy
2107
nt_change
T>C
n_bp
1
nuc_numb
2107
g_numb
g16
aa_numb_HGVS
703
aa_numb_legacy
703
aa_first
Leu
aa_last
Pro
aa_syn
p.Leu703Pro
codon_first
CTG
codon_last
CCG
coordinate_GRCh38
133442617
gnomAD_AC
2
gnomAD_AN
1613276
gnomAD_AF
0.00000124
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
332
Patients linked by mut_id
No linked patients found.