Variant detail

mut_id 383 · c.3856T>A · p.Tyr1286Asn

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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 1286 AlphaMissense key Y1286N
HGVS
c.3856T>A
Protein change
p.Tyr1286Asn
Location
exon 27
Domain
CUB 1
Gene
ADAMTS13

References

No references linked via ref_id / all_references / reference.

Amino-acid property change

Residue substitution
Y → N at 1286
AlphaMissense score
0.8764
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
large → medium
Residue type
aromatic → Unknown
Typical protein position
surface → surface (unchanged)
Hydropathy index
-1.3 → -3.5
Molecular weight
181.2 → 132.1
Original residue details
Y · tyrosine
code: Tyr
hydro: hydrophobic
charge: neutral
polarity: polar
size: large
type: aromatic
Variant residue details
N · asparagine
code: Asn
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 1286 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: CUB 1
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.3856T>A
cdna_numb_HGVS
3856
cdna_numb_legacy
3856
nt_change
T>A
n_bp
1
nuc_numb
3856
g_numb
g16
aa_numb_HGVS
1286
aa_numb_legacy
1286
aa_first
Tyr
aa_last
Asn
aa_syn
p.Tyr1286Asn
g_id
g16
g_name
ADAMTS13
ref_id
332

Patients linked by mut_id

No linked patients found.