Variant detail

mut_id 73 · c.1491G>C · p.Lys497Asn

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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 Uncertain signiificance Residue 497 AlphaMissense key K497N
HGVS
c.1491G>C
Protein change
p.Lys497Asn
rsID
rs781786860
ClinVar ID
3146993
GRCh38 coordinate
133437804
Location
exon 13
gnomAD AF
0.00000991
Domain
Cysteine-rich
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

No references linked via ref_id / all_references / reference.

Amino-acid property change

Residue substitution
K → N at 497
AlphaMissense score
0.2857
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
postive → neutral
Polarity
polar → polar (unchanged)
Size
large → medium
Residue type
basic → Unknown
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.9 → -3.5
Molecular weight
146.2 → 132.1
Original residue details
K · lysine
code: Lys
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
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 497 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.1491G>C
cdna_numb_HGVS
1491
cdna_numb_legacy
1491
nt_change
G>C
n_bp
1
nuc_numb
1491
g_numb
g16
aa_numb_HGVS
497
aa_numb_legacy
497
aa_first
Lys
aa_last
Asn
aa_syn
p.Lys497Asn
codon_first
AAG
codon_last
AAC
coordinate_GRCh38
133437804
gnomAD_AC
16
gnomAD_AN
1613990
gnomAD_AF
0.00000991
clinvar_id
3146993
clinvar_classification
Uncertain signiificance
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
332

Patients linked by mut_id

No linked patients found.