Variant detail

mut_id 320 · c.1582A>G · p.Arg528Gly

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Evidence at a glance

0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point missense_variant Residue 528 AlphaMissense key R528G
HGVS
c.1582A>G
Protein change
p.Arg528Gly
rsID
rs121908473
Location
exon 13
gnomAD AF
6.20E-07
Domain
Cysteine-rich
Gene
ADAMTS13

External links

dbSNP

References

Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity
Authors: Kokame K, Matsumoto M, Soejima K, Yagi H, Ishizashi H, Funato M, Tamai H, Konno M, Kamide K, Kawano Y, Miyata T, Fujimura Y.
Source: Proc Natl Acad Sci U S A (2002)
Citation: Proc Natl Acad Sci U S A. 2002 Sep 3;99(18):11902-7. doi: 10.1073/pnas.172277399. Epub 2002 Aug 14.
PubMed: 12181489 · DOI: 10.1073/pnas.172277399

Amino-acid property change

Residue substitution
R → G at 528
AlphaMissense score
0.3397
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophobic
Charge
postive → neutral
Polarity
polar → polar (unchanged)
Size
large → small
Residue type
basic → aliphatic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-4.5 → -0.4
Molecular weight
174.2 → 75.1
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic

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 528 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.1582A>G
cdna_numb_HGVS
1582
cdna_numb_legacy
1582
nt_change
A>G
n_bp
1
nuc_numb
1582
g_numb
g16
aa_numb_HGVS
528
aa_numb_legacy
528
aa_first
Arg
aa_last
Gly
aa_syn
p.Arg528Gly
codon_first
AGG
codon_last
GGG
gnomAD_AC
1
gnomAD_AN
1613470
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
188

Patients linked by mut_id

No linked patients found.