Variant detail

mut_id 88 · c.1892C>T · p.Ala631Val

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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 631 AlphaMissense key A631V
HGVS
c.1892C>T
Protein change
p.Ala631Val
GRCh38 coordinate
133440449
Location
exon 16
Domain
Spacer
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
A → V at 631
AlphaMissense score
0.1009
Likely benign
CSV class: LBen
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → nonpolar (unchanged)
Size
small → medium
Residue type
aliphatic → aliphatic (unchanged)
Typical protein position
buried → buried (unchanged)
Hydropathy index
1.8 → 4.2
Molecular weight
89.1 → 117.1
Original residue details
A · alanine
code: Ala
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: small
type: aliphatic
Variant residue details
V · valine
code: Val
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
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 631 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Spacer
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.1892C>T
cdna_numb_HGVS
1892
cdna_numb_legacy
1892
nt_change
C>T
n_bp
1
nuc_numb
1892
g_numb
g16
aa_numb_HGVS
631
aa_numb_legacy
631
aa_first
Ala
aa_last
Val
aa_syn
p.Ala631Val
codon_first
GCC
codon_last
GTC
coordinate_GRCh38
133440449
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
7, 139

Patients linked by mut_id

No linked patients found.