Variant detail

mut_id 55 · c.1226G>A · p.Arg409Gln

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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 signiificance Residue 409 AlphaMissense key R409Q
HGVS
c.1226G>A
Protein change
p.Arg409Gln
rsID
rs1588165946
ClinVar ID
3902251
GRCh38 coordinate
133433511
Location
exon 10
gnomAD AF
0.00000309
Domain
TSP type-1 1
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

Long-term follow-up of patients with congenital thrombotic thrombocytopenia purpura receiving a plasma-derived factor VIII (Koate) that contains ADAMTS13
Authors: Chrisentery-Singleton T, Boggio LN, Carcao MD, Ibrahimi S, Khan O, Mahajerin A, Rajasekhar A, Sharma V, Steele M, Torres M, Rodino FJ, Carpenter SL.
Source: Haemophilia (2023)
Citation: Haemophilia. 2023 Nov;29(6):1638-1645. doi: 10.1111/hae.14891. Epub 2023 Oct 19.
PubMed: 37855744 · DOI: 10.1111/hae.14891

Amino-acid property change

Residue substitution
R → Q at 409
AlphaMissense score
0.4602
Uncertain
CSV class: Amb
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 409 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 1
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.1226G>A
cdna_numb_HGVS
1226
cdna_numb_legacy
1226
nt_change
G>A
n_bp
1
nuc_numb
1226
g_numb
g16
aa_numb_HGVS
409
aa_numb_legacy
409
aa_first
Arg
aa_last
Gln
aa_syn
p.Arg409Gln
codon_first
CGG
codon_last
CAG
coordinate_GRCh38
133433511
gnomAD_AC
5
gnomAD_AN
1613558
gnomAD_AF
0.00000309
clinvar_id
3902251
clinvar_classification
Uncertain signiificance
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
10

Patients linked by mut_id

No linked patients found.