Variant detail

mut_id 135 · c.3223C>T · p.Arg1075Cys

Back Advanced search Full table

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 1075 AlphaMissense key R1075C
HGVS
c.3223C>T
Protein change
p.Arg1075Cys
rsID
rs782700247
ClinVar ID
1163040
GRCh38 coordinate
133454593
Location
exon 24
gnomAD AF
0.00000436
Domain
TSP type-1 8
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

Upshaw-Schulman Syndrome: Novel homozygous missense mutation
Authors: Sarmiento H, Pomares IM, Manresa PM, Castaño FL, Hernandez LM, Marco P.
Source: Thromb Res (2017)
Citation: Thromb Res. 2017 Oct;158:83-85. doi: 10.1016/j.thromres.2017.08.013. Epub 2017 Aug 23.
PubMed: 28858683 · DOI: 10.1016/j.thromres.2017.08.013

Amino-acid property change

Residue substitution
R → C at 1075
AlphaMissense score
0.2151
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
postive → neutral
Polarity
polar → polar (unchanged)
Size
large → medium
Residue type
basic → Unknown
Typical protein position
surface → buried
Hydropathy index
-4.5 → 2.5
Molecular weight
174.2 → 121.2
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
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 1075 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 8
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.3223C>T
cdna_numb_HGVS
3223
cdna_numb_legacy
3223
nt_change
C>T
n_bp
1
nuc_numb
3223
g_numb
g16
aa_numb_HGVS
1075
aa_numb_legacy
1075
aa_first
Arg
aa_last
Cys
aa_syn
p.Arg1075Cys
codon_first
CGC
codon_last
TGC
coordinate_GRCh38
133454593
gnomAD_AC
7
gnomAD_AN
1604450
gnomAD_AF
0.00000436
clinvar_id
1163040
clinvar_classification
Uncertain significance
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
292

Patients linked by mut_id

No linked patients found.