Variant detail

mut_id 16 · c.356C>T · p.Ser119Phe

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Evidence at a glance

1
Linked patients
1
Patient-variant records
3
Linked references
1
Countries reported
cTTP (1)
Common phenotype
homozygous (1)
Common zygosity

Summary

Point missense_variant Residue 119 AlphaMissense key S119F
HGVS
c.356C>T
Protein change
p.Ser119Phe
GRCh38 coordinate
133425554
Location
exon 4
Domain
Metalloprotease
Gene
ADAMTS13

External links

gnomAD

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 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura
Authors: Lotta LA, Garagiola I, Palla R, Cairo A, Peyvandi F.
Source: Hum Mutat (2010)
Citation: Hum Mutat. 2010 Jan;31(1):11-9. doi: 10.1002/humu.21143.
PubMed: 19847791 · DOI: 10.1002/humu.21143
Congenital thrombotic thrombocytopenic purpura associated with unilateral moyamoya disease
Authors: Park HW, Oh D, Kim N, Cho HY, Moon KC, Chae JH, Ahn HS, Choi Y, Cheong HI.
Source: Pediatr Nephrol (2008)
Citation: Pediatr Nephrol. 2008 Sep;23(9):1555-8. doi: 10.1007/s00467-008-0847-5. Epub 2008 May 15.
PubMed: 18481107 · DOI: 10.1007/s00467-008-0847-5

Amino-acid property change

Residue substitution
S → F at 119
AlphaMissense score
0.4464
Uncertain
CSV class: Amb
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
small → large
Residue type
Unknown → aromatic
Typical protein position
surface → buried
Hydropathy index
-0.8 → 2.8
Molecular weight
105.0 → 165.2
Original residue details
S · serine
code: Ser
hydro: hydrophilic
charge: neutral
polarity: polar
size: small
type:
Variant residue details
F · phenylalanine
code: Phe
hydro: hydrophobic
charge: neutral
polarity: nonpolar
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 119 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Tunisia (1)
Phenotype
cTTP (1)
Zygosity
homozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=17; range=17–17
Age of diagnosis
n=1; median=21; range=21–21
Platelet count
n=1; median=21; range=21–21

Variant fields

mut_syn_HGVS
c.356C>T
cdna_numb_HGVS
356
cdna_numb_legacy
356
nt_change
C>T
n_bp
1
nuc_numb
356
g_numb
g16
aa_numb_HGVS
119
aa_numb_legacy
119
aa_first
Ser
aa_last
Phe
aa_syn
p.Ser119Phe
codon_first
TCC
codon_last
TTC
coordinate_GRCh38
133425554
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 152, 159

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
133 16 . 159 cTTP homozygous Tunisia male 17 21 <5 21 no none PI