Variant detail

mut_id 74 · c.1510G>T · p.Asp504Tyr

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Evidence at a glance

0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point missense_variant Residue 504 AlphaMissense key D504Y
HGVS
c.1510G>T
Protein change
p.Asp504Tyr
GRCh38 coordinate
133437823
Location
exon 13
Domain
Cysteine-rich
Gene
ADAMTS13

External links

gnomAD

References

Characterization and treatment of congenital thrombotic thrombocytopenic purpura
Authors: Alwan F, Vendramin C, Liesner R, Clark A, Lester W, Dutt T, Thomas W, Gooding R, Biss T, Watson HG, Cooper N, Rayment R, Cranfield T, van Veen JJ, Hill QA, Davis S, Motwani J, Bhatnagar N, Priddee N, David M, Crowley MP, Alamelu J, Lyall H, Westwood JP, Thomas M, Scully M.
Source: Blood (2019)
Citation: Blood. 2019 Apr 11;133(15):1644-1651. doi: 10.1182/blood-2018-11-884700. Epub 2019 Feb 15.
PubMed: 30770395 · DOI: 10.1182/blood-2018-11-884700

Amino-acid property change

Residue substitution
D → Y at 504
AlphaMissense score
0.8518
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
negative → neutral
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
acidic → aromatic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -1.3
Molecular weight
133.1 → 181.2
Original residue details
D · aspartic acid
code: Asp
hydro: hydrophilic
charge: negative
polarity: polar
size: medium
type: acidic
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 504 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Cysteine-rich
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.1510G>T
cdna_numb_HGVS
1510
cdna_numb_legacy
1510
nt_change
G>T
n_bp
1
nuc_numb
1510
g_numb
g16
aa_numb_HGVS
504
aa_numb_legacy
504
aa_first
Asp
aa_last
Tyr
aa_syn
p.Asp504Tyr
codon_first
GAT
codon_last
TAT
coordinate_GRCh38
133437823
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
73

Patients linked by mut_id

No linked patients found.