Variant detail

mut_id 68 · c.1382C>A · p.Ser461Tyr

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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 Residue 461 AlphaMissense key S461Y
HGVS
c.1382C>A
Protein change
p.Ser461Tyr
GRCh38 coordinate
133436903
Location
exon 12
Domain
Cysteine-rich
Gene
ADAMTS13

External links

gnomAD

References

Long-term follow-up of patients with congenital thrombotic thrombocytopenia purpura receiving a plasma-derived factor VIII (Koate) that contains ADAMTS13
Authors: Chrisentery-Singleton T, Boggio LN, Carcao MD, Ibrahimi S, Khan O, Mahajerin A, Rajasekhar A, Sharma V, Steele M, Torres M, Rodino FJ, Carpenter SL.
Source: Haemophilia (2023)
Citation: Haemophilia. 2023 Nov;29(6):1638-1645. doi: 10.1111/hae.14891. Epub 2023 Oct 19.
PubMed: 37855744 · DOI: 10.1111/hae.14891

Amino-acid property change

Residue substitution
S → Y at 461
AlphaMissense score
0.1158
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
small → large
Residue type
Unknown → aromatic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-0.8 → -1.3
Molecular weight
105.0 → 181.2
Original residue details
S · serine
code: Ser
hydro: hydrophilic
charge: neutral
polarity: polar
size: small
type:
Variant residue details
Y · tyrosine
code: Tyr
hydro: hydrophobic
charge: neutral
polarity: polar
size: large
type: aromatic

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 461 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Cysteine-rich
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.1382C>A
cdna_numb_HGVS
1382
cdna_numb_legacy
1382
nt_change
C>A
n_bp
1
nuc_numb
1382
g_numb
g16
aa_numb_HGVS
461
aa_numb_legacy
461
aa_first
Ser
aa_last
Tyr
aa_syn
p.Ser461Tyr
codon_first
TCC
codon_last
TCA
coordinate_GRCh38
133436903
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
10

Patients linked by mut_id

No linked patients found.