Variant detail

mut_id 87 · c.1883A>G · p.Tyr628Cys

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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 628 AlphaMissense key Y628C
HGVS
c.1883A>G
Protein change
p.Tyr628Cys
GRCh38 coordinate
133440440
Location
exon 16
gnomAD AF
0.00000123
Domain
Spacer
Gene
ADAMTS13

External links

gnomAD

References

NEPHRO-ZEBRA-a neonate with severe jaundice, persistent thrombocytopenia & recurrent acute kidney injury later in childhood: Joining the dots!
Authors: Sethi SK, Yadav SP, Moideen A, Raina R.
Source: J Nephrol (2024)
Citation: J Nephrol. 2024 Apr;37(3):827-829. doi: 10.1007/s40620-023-01848-w. Epub 2024 Jan 25.
PubMed: 38267796 · DOI: 10.1007/s40620-023-01848-w

Amino-acid property change

Residue substitution
Y → C at 628
AlphaMissense score
0.8578
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 628 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Spacer
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Italy (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=1.7; range=1.7–1.7
Age of onset
Not available
Age of diagnosis
n=1; median=74; range=74–74
Platelet count
n=1; median=66; range=66–66

Variant fields

mut_syn_HGVS
c.1883A>G
cdna_numb_HGVS
1883
cdna_numb_legacy
1883
nt_change
A>G
n_bp
1
nuc_numb
1883
g_numb
g16
aa_numb_HGVS
628
aa_numb_legacy
628
aa_first
Tyr
aa_last
Cys
aa_syn
p.Tyr628Cys
codon_first
TAC
codon_last
TGC
coordinate_GRCh38
133440440
gnomAD_AC
2
gnomAD_AN
1613794
gnomAD_AF
0.00000123
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
7, 327

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
278 87 138 327 cTTP compound_heterozygous Italy female unknown 74 1.7 66 no none unknown