Variant detail

mut_id 44 · c.844G>C · p.Val282Leu

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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 282 AlphaMissense key V282L
HGVS
c.844G>C
Protein change
p.Val282Leu
rsID
rs782674608
GRCh38 coordinate
133429958
Location
exon 8
gnomAD AF
0.0000039
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP 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 → L at 282
AlphaMissense score
0.0942
Likely benign
CSV class: LBen
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → nonpolar (unchanged)
Size
medium → large
Residue type
aliphatic → aliphatic (unchanged)
Typical protein position
buried → buried (unchanged)
Hydropathy index
4.2 → 3.8
Molecular weight
117.1 → 131.2
Original residue details
V · valine
code: Val
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
type: aliphatic
Variant residue details
L · leucine
code: Leu
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
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 282 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.844G>C
cdna_numb_HGVS
844
cdna_numb_legacy
844
nt_change
G>C
n_bp
1
nuc_numb
844
g_numb
g16
aa_numb_HGVS
282
aa_numb_legacy
282
aa_first
Val
aa_last
Leu
aa_syn
p.Val282Leu
codon_first
GTG
codon_last
CTG
coordinate_GRCh38
133429958
gnomAD_AC
6
gnomAD_AN
1538378
gnomAD_AF
0.0000039
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
76

Patients linked by mut_id

No linked patients found.