Variant detail

mut_id 316 · c.1370C>T · p.Pro457Leu

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Evidence at a glance

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

Summary

Point missense_variant Residue 457 AlphaMissense key P457L
HGVS
c.1370C>T
Protein change
p.Pro457Leu
rsID
rs36220240
Location
exon 12
gnomAD AF
0.002119
Domain
Cysteine-rich
Gene
ADAMTS13

External links

dbSNP

References

Complement activation associated with ADAMTS13 deficiency may contribute to the characteristic glomerular manifestations in Upshaw-Schulman syndrome
Authors: Itami H, Hara S, Matsumoto M, Imamura S, Kanai R, Nishiyama K, Ishimura M, Ohga S, Yoshida M, Tanaka R, Ogawa Y, Asada Y, Sekita-Hatakeyama Y, Hatakeyama K, Ohbayashi C.
Source: Thromb Res (2018)
Citation: Thromb Res. 2018 Oct;170:148-155. doi: 10.1016/j.thromres.2018.08.020. Epub 2018 Sep 1.
PubMed: 30195146 · DOI: 10.1016/j.thromres.2018.08.020
Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13
Authors: Pimanda JE, Maekawa A, Wind T, Paxton J, Chesterman CN, Hogg PJ.
Source: Blood (2004)
Citation: Blood. 2004 Jan 15;103(2):627-9. doi: 10.1182/blood-2003-04-1346. Epub 2003 Sep 25.
PubMed: 14512317 · DOI: 10.1182/blood-2003-04-1346

Amino-acid property change

Residue substitution
P → L at 457
AlphaMissense score
0.0998
Likely benign
CSV class: LBen
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → nonpolar (unchanged)
Size
medium → large
Residue type
Unknown → aliphatic
Typical protein position
surface → buried
Hydropathy index
-1.6 → 3.8
Molecular weight
115.1 → 131.2
Original residue details
P · proline
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
type:
Variant residue details
L · leucine
code: Leu
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
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 457 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Cysteine-rich
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Portugal (1)
Phenotype
cTTP (1)
Zygosity
heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=10; range=10–10
Age of onset
n=1; median=20; range=20–20
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.1370C>T
cdna_numb_HGVS
1370
cdna_numb_legacy
1370
nt_change
C>T
n_bp
1
nuc_numb
1370
g_numb
g16
aa_numb_HGVS
457
aa_numb_legacy
457
aa_first
Pro
aa_last
Leu
aa_syn
p.Pro457Leu
codon_first
CCG
codon_last
CTG
gnomAD_AC
3363
gnomAD_AN
1587272
gnomAD_AF
0.002119
g_id
g16
g_name
ADAMTS13
comments
Conflicting
refState
complete
ref_id
78, 181

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
321 316 . 78 cTTP heterozygous Portugal male 20 unknown <10 unknown no none PI