Variant detail

mut_id 270 · c.4007G>A · p.Arg1336Gln

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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

Point missense_variant Uncertain significance Residue 133 AlphaMissense key R133Q
HGVS
c.4007G>A
Protein change
p.Arg1336Gln
rsID
rs782213090
ClinVar ID
1050245
GRCh38 coordinate
133458024
Location
exon 28
gnomAD AF
0.00001736
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

No references linked via ref_id / all_references / reference.

Amino-acid property change

Residue substitution
R → Q at 133
AlphaMissense score
Not available
No local AlphaMissense row found for R133Q.
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 133 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.4007G>A
cdna_numb_HGVS
4007
cdna_numb_legacy
4007
nt_change
G>A
n_bp
1
nuc_numb
4007
g_numb
g16
aa_numb_HGVS
133
aa_numb_legacy
133
aa_first
Arg
aa_last
Gln
aa_syn
p.Arg1336Gln
codon_first
CGG
codon_last
CAG
coordinate_GRCh38
133458024
gnomAD_AC
28
gnomAD_AN
1613314
gnomAD_AF
0.00001736
clinvar_id
1050245
clinvar_classification
Uncertain significance
g_id
g16
g_name
ADAMTS13
comments
Uncertain significance
refState
complete
ref_id
1

Patients linked by mut_id

No linked patients found.