Variant detail

mut_id 132 · c.3116G>A · p.Cys1039Tyr

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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 1039 AlphaMissense key C1039Y
HGVS
c.3116G>A
Protein change
p.Cys1039Tyr
GRCh38 coordinate
133454486
Location
exon 24
Domain
TSP type-1 7
Gene
ADAMTS13

External links

gnomAD

References

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

Amino-acid property change

Residue substitution
C → Y at 1039
AlphaMissense score
0.9435
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 1039 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 7
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.3116G>A
cdna_numb_HGVS
3116
cdna_numb_legacy
3116
nt_change
G>A
n_bp
1
nuc_numb
3116
g_numb
g16
aa_numb_HGVS
1039
aa_numb_legacy
1039
aa_first
Cys
aa_last
Tyr
aa_syn
p.Cys1039Tyr
codon_first
TGT
codon_last
TAT
coordinate_GRCh38
133454486
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
205

Patients linked by mut_id

No linked patients found.