Variant detail

mut_id 45 · c.914A>G · p.Tyr305Cys

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Evidence at a glance

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

Summary

Point missense_variant Residue 305 AlphaMissense key Y305C
HGVS
c.914A>G
Protein change
p.Tyr305Cys
Location
exon 8
Domain
Disintegrin
Gene
ADAMTS13

References

Novel homozygous ADAMTS13 mutation with neonatal presentation of congenital thrombotic thrombocytopenic purpura in two Indian origin babies
Authors: Debaditya Das, Ming Wei Lee, Shivani Dogra, Bikramjit Das, Joyce Lam, Sudip Sengupta, Rajat Bhattacharyya
Source: Pediatric Hematology Oncology Journal (2019)
Citation: Pediatric Hematology Oncology Journal, Valume 4, Issue 1, 2019. Pages 27-29, ISSN 2468-1245
DOI: 10.1016/j.phoj.2018.12.001

Amino-acid property change

Residue substitution
Y → C at 305
AlphaMissense score
0.7236
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
large → medium
Residue type
aromatic → Unknown
Typical protein position
surface → buried
Hydropathy index
-1.3 → 2.5
Molecular weight
181.2 → 121.2
Original residue details
Y · tyrosine
code: Tyr
hydro: hydrophobic
charge: neutral
polarity: polar
size: large
type: aromatic
Variant residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
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 305 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Disintegrin
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Germany (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
none (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.914A>G
cdna_numb_HGVS
914
cdna_numb_legacy
914
nt_change
A>G
n_bp
1
nuc_numb
914
g_numb
g16
aa_numb_HGVS
305
aa_numb_legacy
305
aa_first
Tyr
aa_last
Cys
aa_syn
p.Tyr305Cys
codon_first
TAC
codon_last
TGC
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
305

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
252 45 276 305 cTTP compound_heterozygous Germany male <1 unknown <5 unknown no none none