Variant detail

mut_id 382 · c.3801C>G · p.Asn1267Lys

Back Advanced search Full table

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 1267 AlphaMissense key N1267K
HGVS
c.3801C>G
Protein change
p.Asn1267Lys
Location
exon 27
Domain
CUB 1
Gene
ADAMTS13

References

No references linked via ref_id / all_references / reference.

Amino-acid property change

Residue substitution
N → K at 1267
AlphaMissense score
0.9476
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 1267 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.3801C>G
cdna_numb_HGVS
3801
cdna_numb_legacy
3801
nt_change
C>G
n_bp
1
nuc_numb
3801
g_numb
g16
aa_numb_HGVS
1267
aa_numb_legacy
1267
aa_first
Asn
aa_last
Lys
aa_syn
p.Asn1267Lys
g_id
g16
g_name
ADAMTS13
ref_id
332

Patients linked by mut_id

No linked patients found.