Variant detail

mut_id 300 · c.964T>G · p.Cys322Gly

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Evidence at a glance

1
Linked patients
1
Patient-variant records
2
Linked references
1
Countries reported
cTTP (1)
Common phenotype
compound_heterozygous (1)
Common zygosity

Summary

Point missense_variant Residue 322 AlphaMissense key C322G
HGVS
c.964T>G
Protein change
p.Cys322Gly
rsID
rs931645668
GRCh38 coordinate
133430078
Location
exon 8
gnomAD AF
0.00000502
Domain
Disintegrin
Gene
ADAMTS13

External links

dbSNP gnomAD

References

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 microangiopathy in a 17-year-old patient: TTP, HUS or a bit of both?
Authors: Gerth J, Busch M, Oyen F, Schneppenheim R, Keller T, Budde U, Groene HJ, Wolf G.
Source: Clin Nephrol (2007)
Citation: Clin Nephrol. 2007 Dec;68(6):405-11. doi: 10.5414/cnp68405.
PubMed: 18184524 · DOI: 10.5414/cnp68405

Amino-acid property change

Residue substitution
C → G at 322
AlphaMissense score
0.9212
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
medium → small
Residue type
Unknown → aliphatic
Typical protein position
buried → surface
Hydropathy index
2.5 → -0.4
Molecular weight
121.2 → 75.1
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic

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 322 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Disintegrin
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Japan (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=3; range=3–3
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=3; range=3–3
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.964T>G
cdna_numb_HGVS
964
cdna_numb_legacy
964
nt_change
T>G
n_bp
1
nuc_numb
964
g_numb
g16
aa_numb_HGVS
322
aa_numb_legacy
322
aa_first
Cys
aa_last
Gly
aa_syn
p.Cys322Gly
codon_first
TGC
codon_last
GGC
coordinate_GRCh38
133430078
gnomAD_AC
8
gnomAD_AN
1593086
gnomAD_AF
0.00000502
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
76, 269

Patients linked by mut_id

patient_id mut_id compound_partner_mut_id ref_id phenotype zygosity country sex age_of_onset age_of_diagnosis ad13_activity platelet_count pregnancy_related triggers treatment
235 300 345 269 cTTP compound_heterozygous Japan male <1 3 <3 unknown no none PI