Variant detail

mut_id 348 · c.2836T>C · p.Cys946Arg

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Evidence at a glance

0
Linked patients
0
Patient-variant records
3
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point missense_variant Residue 946 AlphaMissense key C946R
HGVS
c.2836T>C
Protein change
p.Cys946Arg
Location
exon 22
gnomAD AF
0.00000187
Domain
TSP type-1 5
Gene
ADAMTS13

References

Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review
Authors: Beauvais D, Venditti L, Chassin O, Joly B, Ameri A, Boisseau P, Lambotte O, Coppo P, Veyradier A, Denier C.
Source: J Stroke Cerebrovasc Dis (2019)
Citation: J Stroke Cerebrovasc Dis. 2019 Jun;28(6):1537-1539. doi: 10.1016/j.jstrokecerebrovasdis.2019.03.011. Epub 2019 Mar 28.
PubMed: 30930238 · DOI: 10.1016/j.jstrokecerebrovasdis.2019.03.011
A Rare Case of Thrombotic Thrombocytopenic Purpura Caused by Pancreatitis and Clopidogrel
Authors: Rawala MS, Naqvi STS, Khan MY, El Toukhy A.
Source: Am J Case Rep (2018)
Citation: Am J Case Rep. 2018 Oct 30;19:1288-1291. doi: 10.12659/AJCR.911679.
PubMed: 30374015 · DOI: 10.12659/AJCR.911679
Thrombotic thrombocytopenic purpura in childhood: an uncommon but life-threatening cause of thrombocytopenia
Authors: Davis A, Barnes C.
Source: J Paediatr Child Health (2007)
Citation: J Paediatr Child Health. 2007 Sep;43(9):640-2. doi: 10.1111/j.1440-1754.2007.01178.x.
PubMed: 17688649 · DOI: 10.1111/j.1440-1754.2007.01178.x

Amino-acid property change

Residue substitution
C → R at 946
AlphaMissense score
0.9005
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → postive
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
Unknown → basic
Typical protein position
buried → surface
Hydropathy index
2.5 → -4.5
Molecular weight
121.2 → 174.2
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
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 946 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 5
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.2836T>C
cdna_numb_HGVS
2836
cdna_numb_legacy
2836
nt_change
T>C
n_bp
1
nuc_numb
2836
g_numb
g16
aa_numb_HGVS
946
aa_numb_legacy
946
aa_first
Cys
aa_last
Arg
aa_syn
p.Cys946Arg
codon_first
TGC
codon_last
CGC
gnomAD_AC
3
gnomAD_AN
1603352
gnomAD_AF
0.00000187
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 76, 271

Patients linked by mut_id

No linked patients found.