Variant detail

mut_id 51 · c.1097G>A · p.Cys366Tyr

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Evidence at a glance

2
Linked patients
2
Patient-variant records
3
Linked references
1
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (2)
Common zygosity

Summary

Point missense_variant Residue 366 AlphaMissense key C366Y
HGVS
c.1097G>A
Protein change
p.Cys366Tyr
GRCh38 coordinate
133433382
Location
exon 10
Domain
Disintegrin
Gene
ADAMTS13

External links

gnomAD

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
Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China
Authors: Zhang L, Yu J, Xian Y, Wen X, Guan X, Guo Y, Luo M, Dou Y.
Source: J Clin Lab Anal (2021)
Citation: J Clin Lab Anal. 2021 Aug;35(8):e23896. doi: 10.1002/jcla.23896. Epub 2021 Jul 8.
PubMed: 34237177 · DOI: 10.1002/jcla.23896
Risk of diagnostic delay in congenital thrombotic thrombocytopenic purpura
Authors: Ferrari B, Cairo A, Pagliari MT, Mancini I, Arcudi S, Peyvandi F.
Source: J Thromb Haemost (2019)
Citation: J Thromb Haemost. 2019 Apr;17(4):666-669. doi: 10.1111/jth.14409. Epub 2019 Mar 6.
PubMed: 30762934 · DOI: 10.1111/jth.14409

Amino-acid property change

Residue substitution
C → Y at 366
AlphaMissense score
0.9635
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
Unknown → aromatic
Typical protein position
buried → surface
Hydropathy index
2.5 → -1.3
Molecular weight
121.2 → 181.2
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
Y · tyrosine
code: Tyr
hydro: hydrophobic
charge: neutral
polarity: polar
size: large
type: aromatic

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

Patient summary

Countries represented
Japan (2)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
female (2)
Pregnancy-related
yes (1); unknown (1)
Triggers
pregnancy (1); none (1)
Treatment
unknown (2)
ADAMTS13 activity
n=2; median=1.7; range=0.5–2.9
Age of onset
n=1; median=28; range=28–28
Age of diagnosis
n=1; median=28; range=28–28
Platelet count
n=1; median=21; range=21–21

Variant fields

mut_syn_HGVS
c.1097G>A
cdna_numb_HGVS
1097
cdna_numb_legacy
1097
nt_change
G>A
n_bp
1
nuc_numb
1097
g_numb
g16
aa_numb_HGVS
366
aa_numb_legacy
366
aa_first
Cys
aa_last
Tyr
aa_syn
p.Cys366Tyr
codon_first
TGC
codon_last
TAC
coordinate_GRCh38
133433382
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 205, 216

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
161 51 269 216 cTTP compound_heterozygous Japan female 28 28 <0.5 21 yes pregnancy unknown
162 51 269 216 cTTP compound_heterozygous Japan female unknown unknown 2.9 unknown unknown none unknown