Variant detail

mut_id 155 · c.3854G>C · p.Arg1285Pro

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Evidence at a glance

0
Linked patients
0
Patient-variant records
2
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point missense_variant Residue 1285 AlphaMissense key R1285P
HGVS
c.3854G>C
Protein change
p.Arg1285Pro
Location
exon 27
Domain
CUB 1
Gene
ADAMTS13

References

Characterization and treatment of congenital thrombotic thrombocytopenic purpura
Authors: Alwan F, Vendramin C, Liesner R, Clark A, Lester W, Dutt T, Thomas W, Gooding R, Biss T, Watson HG, Cooper N, Rayment R, Cranfield T, van Veen JJ, Hill QA, Davis S, Motwani J, Bhatnagar N, Priddee N, David M, Crowley MP, Alamelu J, Lyall H, Westwood JP, Thomas M, Scully M.
Source: Blood (2019)
Citation: Blood. 2019 Apr 11;133(15):1644-1651. doi: 10.1182/blood-2018-11-884700. Epub 2019 Feb 15.
PubMed: 30770395 · DOI: 10.1182/blood-2018-11-884700
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 → P at 1285
AlphaMissense score
0.6814
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
postive → neutral
Polarity
polar → nonpolar
Size
large → medium
Residue type
basic → Unknown
Typical protein position
surface → surface (unchanged)
Hydropathy index
-4.5 → -1.6
Molecular weight
174.2 → 115.1
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
P · proline
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
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 1285 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: CUB 1
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.3854G>C
cdna_numb_HGVS
3854
cdna_numb_legacy
3854
nt_change
G>C
n_bp
1
nuc_numb
3854
g_numb
g16
aa_numb_HGVS
1285
aa_numb_legacy
1285
aa_first
Arg
aa_last
Pro
aa_syn
p.Arg1285Pro
codon_first
CGG
codon_last
CCG
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
73, 292

Patients linked by mut_id

No linked patients found.