Variant detail

mut_id 9 · c.286C>G · p.His96Asp

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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 Pathogenic Residue 96 AlphaMissense key H96D
HGVS
c.286C>G
Protein change
p.His96Asp
rsID
rs121908467
ClinVar ID
5798
GRCh38 coordinate
133424434
Location
exon 3
gnomAD AF
0.00000123
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

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
H → D at 96
AlphaMissense score
0.9296
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
postive → negative
Polarity
polar → polar (unchanged)
Size
large → medium
Residue type
aromatic/basic → acidic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.2 → -3.5
Molecular weight
155.2 → 133.1
Original residue details
H · histidine
code: His
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: aromatic/basic
Variant residue details
D · aspartic acid
code: Asp
hydro: hydrophilic
charge: negative
polarity: polar
size: medium
type: acidic

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 96 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.286C>G
cdna_numb_HGVS
286
cdna_numb_legacy
286
nt_change
C>G
n_bp
1
nuc_numb
286
g_numb
g16
aa_numb_HGVS
96
aa_numb_legacy
96
aa_first
His
aa_last
Asp
aa_syn
p.His96Asp
codon_first
CAC
codon_last
GAC
coordinate_GRCh38
133424434
gnomAD_AC
2
gnomAD_AN
1613950
gnomAD_AF
0.00000123
clinvar_id
5798
clinvar_classification
Pathogenic
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
188

Patients linked by mut_id

No linked patients found.