Variant detail

mut_id 362 · c.3688T>A · p.Tyr1230Asn

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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 1230 AlphaMissense key Y1230N
HGVS
c.3688T>A
Protein change
p.Tyr1230Asn
rsID
rs782729077
Location
exon 26
gnomAD AF
6.30E-07
Domain
CUB 1
Gene
ADAMTS13

External links

dbSNP

References

No references linked via ref_id / all_references / reference.

Amino-acid property change

Residue substitution
Y → N at 1230
AlphaMissense score
Not available
No local AlphaMissense row found for Y1230N.
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 1230 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.3688T>A
cdna_numb_HGVS
3688
cdna_numb_legacy
3688
nt_change
T>A
n_bp
1
nuc_numb
3688
g_numb
g16
aa_numb_HGVS
1230
aa_numb_legacy
1230
aa_first
Tyr
aa_last
Asn
aa_syn
p.Tyr1230Asn
codon_first
TAT
codon_last
AAT
gnomAD_AC
1
gnomAD_AN
1587102
gnomAD_AF
6.30E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
332

Patients linked by mut_id

No linked patients found.