Variant detail

mut_id 113 · c.2708C>T · p.Ser903Leu

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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 Benign/Likely Benign Residue 903 AlphaMissense key S903L
HGVS
c.2708C>T
Protein change
p.Ser903Leu
rsID
rs78977446
ClinVar ID
365555
GRCh38 coordinate
133445796
Location
exon 21
gnomAD AF
0.00138
Domain
TSP type-1 5
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

Thrombotic thrombocytopenic purpura associated with von Willebrand factor-cleaving protease (ADAMTS13) deficiency in children
Authors: Loirat C, Veyradier A, Girma JP, Ribba AS, Meyer D.
Source: Semin Thromb Hemost (2006)
Citation: Semin Thromb Hemost. 2006 Mar;32(2):90-7. doi: 10.1055/s-2006-939764.
PubMed: 16575683 · DOI: 10.1055/s-2006-939764

Amino-acid property change

Residue substitution
S → L at 903
AlphaMissense score
0.0759
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
small → large
Residue type
Unknown → aliphatic
Typical protein position
surface → buried
Hydropathy index
-0.8 → 3.8
Molecular weight
105.0 → 131.2
Original residue details
S · serine
code: Ser
hydro: hydrophilic
charge: neutral
polarity: polar
size: small
type:
Variant residue details
L · leucine
code: Leu
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
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 903 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 5
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.2708C>T
cdna_numb_HGVS
2708
cdna_numb_legacy
2708
nt_change
C>T
n_bp
1
nuc_numb
2708
g_numb
g16
aa_numb_HGVS
903
aa_numb_legacy
903
aa_first
Ser
aa_last
Leu
aa_syn
p.Ser903Leu
codon_first
TCG
codon_last
TTG
coordinate_GRCh38
133445796
gnomAD_AC
2194
gnomAD_AN
1590318
gnomAD_AF
0.00138
clinvar_id
365555
clinvar_classification
Benign/Likely Benign
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
168

Patients linked by mut_id

No linked patients found.