Variant detail

mut_id 121 · c.2867A>C · p.Gln956Pro

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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 956 AlphaMissense key Q956P
HGVS
c.2867A>C
Protein change
p.Gln956Pro
GRCh38 coordinate
133449788
Location
exon 23
Domain
TSP type-1 6
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

Amino-acid property change

Residue substitution
Q → P at 956
AlphaMissense score
0.3319
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
large → medium
Residue type
Not available
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -1.6
Molecular weight
146.1 → 115.1
Original residue details
Q · glutamine
code: Gln
hydro: hydrophilic
charge: neutral
polarity: polar
size: large
type:
Variant residue details
P · proline
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
type:

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 956 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 6
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.2867A>C
cdna_numb_HGVS
2867
cdna_numb_legacy
2867
nt_change
A>C
n_bp
1
nuc_numb
2867
g_numb
g16
aa_numb_HGVS
956
aa_numb_legacy
956
aa_first
Gln
aa_last
Pro
aa_syn
p.Gln956Pro
codon_first
CAG
codon_last
CCG
coordinate_GRCh38
133449788
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
7

Patients linked by mut_id

No linked patients found.