Variant detail

mut_id 158 · c.4015del · p.Ile1339SerfsTer21

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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

Deletion Deletion Residue 1339 AlphaMissense key I1339S
HGVS
c.4015del
Protein change
p.Ile1339SerfsTer21
Location
exon 28
Domain
CUB 2
Gene
ADAMTS13

References

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
I → S at 1339
AlphaMissense score
0.9148
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → polar
Size
large → small
Residue type
aliphatic → Unknown
Typical protein position
buried → surface
Hydropathy index
4.5 → -0.8
Molecular weight
131.2 → 105.0
Original residue details
I · isoleucine
code: Ile
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aliphatic
Variant residue details
S · serine
code: Ser
hydro: hydrophilic
charge: neutral
polarity: polar
size: small
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 1339 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: CUB 2
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
UK (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
unknown (1)
ADAMTS13 activity
Not available
Age of onset
Not available
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.4015del
cdna_numb_HGVS
4015
cdna_numb_legacy
4015
nt_change
Deletion
nuc_numb
4015
g_numb
g16
aa_numb_HGVS
1339
aa_numb_legacy
1339
aa_first
Ile
aa_last
Ser
aa_syn
p.Ile1339SerfsTer21
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
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
172 158 133 239 cTTP compound_heterozygous UK female unknown unknown unknown unknown yes pregnancy unknown