Variant detail

mut_id 145 · c.3543del · p.Gln1183ArgfsTer43

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Evidence at a glance

0
Linked patients
0
Patient-variant records
0
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Deletion frameshift_variant Likely pathogenic Residue 1183 AlphaMissense key Q1183R
HGVS
c.3543del
Protein change
p.Gln1183ArgfsTer43
rsID
rs1060499780
ClinVar ID
402223
GRCh38 coordinate
133455575
Location
exon 25
gnomAD AF
0.00000124
Domain
Inter-domain / unassigned region
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

No references linked via ref_id / all_references / reference.

Amino-acid property change

Residue substitution
Q → R at 1183
AlphaMissense score
0.0608
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → postive
Polarity
polar → polar (unchanged)
Size
large → large (unchanged)
Residue type
Unknown → basic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -4.5
Molecular weight
146.1 → 174.2
Original residue details
Q · glutamine
code: Gln
hydro: hydrophilic
charge: neutral
polarity: polar
size: large
type:
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 1183 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.3543del
cdna_numb_HGVS
3543
cdna_numb_legacy
3543
nt_change
Deletion
n_bp
1
nuc_numb
3543
g_numb
g16
aa_numb_HGVS
1183
aa_numb_legacy
1183
aa_first
Gln
aa_last
Arg
aa_syn
p.Gln1183ArgfsTer43
codon_first
CG
codon_last
C
coordinate_GRCh38
133455575
gnomAD_AC
2
gnomAD_AN
1605912
gnomAD_AF
0.00000124
clinvar_id
402223
clinvar_classification
Likely pathogenic
g_id
g16
g_name
ADAMTS13
comments
Likely pathogenic
refState
complete
ref_id
1

Patients linked by mut_id

No linked patients found.