Variant detail

mut_id 307 · c.1187G>A · p.Cys396Tyr

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Evidence at a glance

4
Linked patients
4
Patient-variant records
2
Linked references
1
Countries reported
cTTP (4)
Common phenotype
compound_heterozygous (4)
Common zygosity

Summary

Point missense_variant Residue 396 AlphaMissense key C396Y
HGVS
c.1187G>A
Protein change
p.Cys396Tyr
Location
exon 10
gnomAD AF
6.20E-07
Domain
TSP type-1 1
Gene
ADAMTS13

References

Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19
Authors: Zguro K, Baldassarri M, Fava F, Beligni G, Daga S, Leoncini R, Galasso L, Cirianni M, Rusconi S, Siano M, Francisci D, Schiaroli E, Luchi S, Morelli G, Martinelli E, Girardis M, Busani S, Parisi SG, Panese S, Piscopo C, Capasso M, Tacconi D, Spertilli Raffaelli C, Giliberti A, Gori G, Katsikis PD, Lorubbio M, Calzoni P, Ognibene A, Bocchia M, Tozzi M, Bucalossi A, Marotta G, Furini S, Gen-Covid Multicenter Study, Renieri A, Fallerini C.
Source: Viruses (2022)
Citation: Viruses. 2022 May 29;14(6):1185. doi: 10.3390/v14061185.
PubMed: 35746657 · DOI: 10.3390/v14061185
Insights from the Hereditary Thrombotic Thrombocytopenic Purpura Registry: Discussion of Key Findings Based on Individual Cases from Switzerland
Authors: Kremer Hovinga JA, Braschler TR, Buchkremer F, Farese S, Hengartner H, Lovey PY, Largiadèr CR, Mansouri Taleghani B, Tarasco E.
Source: Hamostaseologie (2020)
Citation: Hamostaseologie. 2020 Nov;40(S 01):S5-S14. doi: 10.1055/a-1282-2264. Epub 2020 Nov 13.
PubMed: 33187004 · DOI: 10.1055/a-1282-2264

Amino-acid property change

Residue substitution
C → Y at 396
AlphaMissense score
0.9618
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 396 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 1
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
China (4)
Phenotype
cTTP (4)
Zygosity
compound_heterozygous (4)
Sex
female (4)
Pregnancy-related
no (4)
Triggers
none (4)
Treatment
none (4)
ADAMTS13 activity
Not available
Age of onset
n=4; median=1; range=1–1
Age of diagnosis
n=3; median=1; range=1–1
Platelet count
n=3; median=51; range=20–146

Variant fields

mut_syn_HGVS
c.1187G>A
cdna_numb_HGVS
1187
cdna_numb_legacy
1187
nt_change
G>A
n_bp
1
nuc_numb
1187
g_numb
g16
aa_numb_HGVS
396
aa_numb_legacy
396
aa_first
Cys
aa_last
Tyr
aa_syn
p.Cys396Tyr
codon_first
TGC
codon_last
TAC
gnomAD_AC
1
gnomAD_AN
1613622
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
28, 49

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
304 307 78 28 cTTP compound_heterozygous China female <1 <1 unknown 51 no none none
305 307 78 28 cTTP compound_heterozygous China female <1 <1 unknown 146 no none none
306 307 78 28 cTTP compound_heterozygous China female <1 <1 unknown 20 no none none
313 307 78 49 cTTP compound_heterozygous China female <1 post-mortem unknown no none none