Variant detail

mut_id 317 · c.1456_1457delAT · p.Met486ValfsTer47

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Evidence at a glance

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

Summary

Deletion frameshift_variant Residue 486 AlphaMissense key M486V
HGVS
c.1456_1457delAT
Protein change
p.Met486ValfsTer47
rsID
rs782242503
Location
exon 13
gnomAD AF
0.00000681
Domain
Cysteine-rich
Gene
ADAMTS13

External links

dbSNP

References

Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review
Authors: Beauvais D, Venditti L, Chassin O, Joly B, Ameri A, Boisseau P, Lambotte O, Coppo P, Veyradier A, Denier C.
Source: J Stroke Cerebrovasc Dis (2019)
Citation: J Stroke Cerebrovasc Dis. 2019 Jun;28(6):1537-1539. doi: 10.1016/j.jstrokecerebrovasdis.2019.03.011. Epub 2019 Mar 28.
PubMed: 30930238 · DOI: 10.1016/j.jstrokecerebrovasdis.2019.03.011
ADAMTS13 and its variants promote angiogenesis via upregulation of VEGF and VEGFR2
Authors: Lee M, Keener J, Xiao J, Long Zheng X, Rodgers GM.
Source: Cell Mol Life Sci (2015)
Citation: Cell Mol Life Sci. 2015 Jan;72(2):349-56. doi: 10.1007/s00018-014-1667-3. Epub 2014 Jun 21.
PubMed: 24950743 · DOI: 10.1007/s00018-014-1667-3

Amino-acid property change

Residue substitution
M → V at 486
AlphaMissense score
0.0695
Likely benign
CSV class: LBen
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → nonpolar (unchanged)
Size
large → medium
Residue type
Unknown → aliphatic
Typical protein position
buried → buried (unchanged)
Hydropathy index
1.9 → 4.2
Molecular weight
149.2 → 117.1
Original residue details
M · methionine
code: Met
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type:
Variant residue details
V · valine
code: Val
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
type: aliphatic

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 486 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Cysteine-rich
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
UK (2)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
female (2)
Pregnancy-related
yes (2)
Triggers
pregnancy (2)
Treatment
unknown (2)
ADAMTS13 activity
Not available
Age of onset
Not available
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.1456_1457delAT
cdna_numb_HGVS
1456
cdna_numb_legacy
1456
nt_change
Deletion
n_bp
2
nuc_numb
1456
g_numb
g16
aa_numb_HGVS
486
aa_numb_legacy
486
aa_first
Met
aa_last
Val
aa_syn
p.Met486ValfsTer47
codon_first
AT
gnomAD_AC
11
gnomAD_AN
1613790
gnomAD_AF
0.00000681
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 239, 332

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
168 317 133 239 cTTP compound_heterozygous UK female unknown unknown unknown unknown yes pregnancy unknown
169 317 133 239 cTTP compound_heterozygous UK female unknown unknown unknown unknown yes pregnancy unknown