Variant detail

mut_id 254 · c.327C>G · p.Asn109Lys

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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 109 AlphaMissense key N109K
HGVS
c.327C>G
Protein change
p.Asn109Lys
rsID
rs1466092212
Location
exon 3
gnomAD AF
0.00000433
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP

References

No references linked via ref_id / all_references / reference.

Amino-acid property change

Residue substitution
N → K at 109
AlphaMissense score
0.7286
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → postive
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
Unknown → basic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -3.9
Molecular weight
132.1 → 146.2
Original residue details
N · asparagine
code: Asn
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
K · lysine
code: Lys
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic

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 109 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.327C>G
cdna_numb_HGVS
327
cdna_numb_legacy
327
nt_change
C>G
n_bp
1
nuc_numb
327
g_numb
g16
aa_numb_HGVS
109
aa_numb_legacy
109
aa_first
Asn
aa_last
Lys
aa_syn
p.Asn109Lys
codon_first
AAC
codon_last
AAG
gnomAD_AC
7
gnomAD_AN
1613104
gnomAD_AF
0.00000433
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
1

Patients linked by mut_id

No linked patients found.