Variant detail

mut_id 7 · c.262G>C · p.Val88Leu

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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 Residue 88 AlphaMissense key V88L
HGVS
c.262G>C
Protein change
p.Val88Leu
GRCh38 coordinate
133424410
Location
exon 3
gnomAD AF
6.20E-07
Domain
Metalloprotease
Gene
ADAMTS13

External links

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 phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom
Authors: Camilleri RS, Scully M, Thomas M, Mackie IJ, Liesner R, Chen WJ, Manns K, Machin SJ.
Source: J Thromb Haemost (2012)
Citation: J Thromb Haemost. 2012 Sep;10(9):1792-801. doi: 10.1111/j.1538-7836.2012.04852.x.
PubMed: 22783805 · DOI: 10.1111/j.1538-7836.2012.04852.x

Amino-acid property change

Residue substitution
V → L at 88
AlphaMissense score
0.6212
Likely pathogenic
CSV class: LPath
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 88 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.262G>C
cdna_numb_HGVS
262
cdna_numb_legacy
262
nt_change
G>C
n_bp
1
nuc_numb
262
g_numb
g16
aa_numb_HGVS
88
aa_numb_legacy
88
aa_first
Val
aa_last
Leu
aa_syn
p.Val88Leu
codon_first
GTG
codon_last
CTG
coordinate_GRCh38
133424410
gnomAD_AC
1
gnomAD_AN
1613704
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
7, 139

Patients linked by mut_id

No linked patients found.