Variant detail

mut_id 21 · c.460G>A · p.Val154Ile

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Evidence at a glance

0
Linked patients
0
Patient-variant records
2
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point missense_variant Uncertain signiificance Residue 154 AlphaMissense key V154I
HGVS
c.460G>A
Protein change
p.Val154Ile
rsID
rs369026148
ClinVar ID
632037
GRCh38 coordinate
133425983
Location
exon 5
gnomAD AF
0.00001487
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

NEPHRO-ZEBRA-a neonate with severe jaundice, persistent thrombocytopenia & recurrent acute kidney injury later in childhood: Joining the dots!
Authors: Sethi SK, Yadav SP, Moideen A, Raina R.
Source: J Nephrol (2024)
Citation: J Nephrol. 2024 Apr;37(3):827-829. doi: 10.1007/s40620-023-01848-w. Epub 2024 Jan 25.
PubMed: 38267796 · DOI: 10.1007/s40620-023-01848-w
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 → I at 154
AlphaMissense score
0.1032
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 → 4.5
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
I · isoleucine
code: Ile
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 154 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.460G>A
cdna_numb_HGVS
460
cdna_numb_legacy
460
nt_change
G>A
n_bp
1
nuc_numb
460
g_numb
g16
aa_numb_HGVS
154
aa_numb_legacy
154
aa_first
Val
aa_last
Ile
aa_syn
p.Val154Ile
codon_first
GTC
codon_last
ATC
coordinate_GRCh38
133425983
gnomAD_AC
24
gnomAD_AN
1613866
gnomAD_AF
0.00001487
clinvar_id
632037
clinvar_classification
Uncertain signiificance
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
7, 76

Patients linked by mut_id

No linked patients found.