Variant detail

mut_id 144 · c.3530G>A · p.Arg1177Gln

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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 Uncertain significance Residue 1177 AlphaMissense key R1177Q
HGVS
c.3530G>A
Protein change
p.Arg1177Gln
rsID
rs370692680
ClinVar ID
3596734
GRCh38 coordinate
133455565
Location
exon 25
gnomAD AF
0.00003048
Domain
Inter-domain / unassigned region
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany
Authors: Hassenpflug WA, Obser T, Bode J, Oyen F, Budde U, Schneppenheim S, Schneppenheim R, Brehm MA.
Source: Thromb Haemost (2018)
Citation: Thromb Haemost. 2018 Apr;118(4):709-722. doi: 10.1055/s-0038-1637749. Epub 2018 Mar 19.
PubMed: 29554699 · DOI: 10.1055/s-0038-1637749

Amino-acid property change

Residue substitution
R → Q at 1177
AlphaMissense score
0.0716
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
postive → neutral
Polarity
polar → polar (unchanged)
Size
large → large (unchanged)
Residue type
basic → Unknown
Typical protein position
surface → surface (unchanged)
Hydropathy index
-4.5 → -3.5
Molecular weight
174.2 → 146.1
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
Q · glutamine
code: Gln
hydro: hydrophilic
charge: neutral
polarity: polar
size: large
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 1177 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Inter-domain / unassigned region
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.3530G>A
cdna_numb_HGVS
3530
cdna_numb_legacy
3530
nt_change
G>A
n_bp
1
nuc_numb
3530
g_numb
g16
aa_numb_HGVS
1177
aa_numb_legacy
1177
aa_first
Arg
aa_last
Gln
aa_syn
p.Arg1177Gln
codon_first
CGG
codon_last
CAG
coordinate_GRCh38
133455565
gnomAD_AC
49
gnomAD_AN
1607850
gnomAD_AF
0.00003048
clinvar_id
3596734
clinvar_classification
Uncertain significance
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
221

Patients linked by mut_id

No linked patients found.