Variant detail

mut_id 103 · c.2275G>A · p.Gly759Arg

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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 759 AlphaMissense key G759R
HGVS
c.2275G>A
Protein change
p.Gly759Arg
rsID
rs782640568
GRCh38 coordinate
133443416
Location
exon 19
gnomAD AF
6.25E-07
Domain
TSP type-1 3
Gene
ADAMTS13

External links

dbSNP 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

Amino-acid property change

Residue substitution
G → R at 759
AlphaMissense score
0.3632
Uncertain
CSV class: Amb
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → postive
Polarity
polar → polar (unchanged)
Size
small → large
Residue type
aliphatic → basic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-0.4 → -4.5
Molecular weight
75.1 → 174.2
Original residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic
Variant residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic

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 759 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 3
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.2275G>A
cdna_numb_HGVS
2275
cdna_numb_legacy
2275
nt_change
G>A
n_bp
1
nuc_numb
2275
g_numb
g16
aa_numb_HGVS
759
aa_numb_legacy
759
aa_first
Gly
aa_last
Arg
aa_syn
p.Gly759Arg
codon_first
GGG
codon_last
AGG
coordinate_GRCh38
133443416
gnomAD_AC
1
gnomAD_AN
1599294
gnomAD_AF
6.25E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
7

Patients linked by mut_id

No linked patients found.