Variant detail

mut_id 123 · c.2890G>A · p.Val964Met

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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 Conflicting classifications of pathogenicity Residue 964 AlphaMissense key V964M
HGVS
c.2890G>A
Protein change
p.Val964Met
rsID
rs141811556
ClinVar ID
912767
GRCh38 coordinate
133449811
Location
exon 23
gnomAD AF
0.00009294
Domain
TSP type-1 6
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

A Rare Case of Thrombotic Thrombocytopenic Purpura Caused by Pancreatitis and Clopidogrel
Authors: Rawala MS, Naqvi STS, Khan MY, El Toukhy A.
Source: Am J Case Rep (2018)
Citation: Am J Case Rep. 2018 Oct 30;19:1288-1291. doi: 10.12659/AJCR.911679.
PubMed: 30374015 · DOI: 10.12659/AJCR.911679

Amino-acid property change

Residue substitution
V → M at 964
AlphaMissense score
0.1355
Likely benign
CSV class: LBen
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → nonpolar (unchanged)
Size
medium → large
Residue type
aliphatic → Unknown
Typical protein position
buried → buried (unchanged)
Hydropathy index
4.2 → 1.9
Molecular weight
117.1 → 149.2
Original residue details
V · valine
code: Val
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
type: aliphatic
Variant residue details
M · methionine
code: Met
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
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 964 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 6
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.2890G>A
cdna_numb_HGVS
2890
cdna_numb_legacy
2890
nt_change
G>A
n_bp
1
nuc_numb
2890
g_numb
g16
aa_numb_HGVS
964
aa_numb_legacy
964
aa_first
Val
aa_last
Met
aa_syn
p.Val964Met
codon_first
GTG
codon_last
ATG
coordinate_GRCh38
133449811
gnomAD_AC
150
gnomAD_AN
1614030
gnomAD_AF
0.00009294
clinvar_id
912767
clinvar_classification
Conflicting classifications of pathogenicity
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
76

Patients linked by mut_id

No linked patients found.