Variant detail

mut_id 292 · c.749C>T · p.Ala250Val

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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
compound_heterozygous (1)
Common zygosity

Summary

Point missense_variant Pathogenic Residue 250 AlphaMissense key A250V
HGVS
c.749C>T
Protein change
p.Ala250Val
rsID
rs121908478
ClinVar ID
5818
GRCh38 coordinate
133428696
Location
exon 7
gnomAD AF
7.33E-07
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar 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
Thrombocytopenia and severe hyperbilirubinemia in the neonatal period secondary to congenital thrombotic thrombocytopenic purpura and ADAMTS13 deficiency
Authors: Schiff DE, Roberts WD, Willert J, Tsai HM.
Source: J Pediatr Hematol Oncol (2004)
Citation: J Pediatr Hematol Oncol. 2004 Aug;26(8):535-8. doi: 10.1097/01.mph.0000135284.85292.2c.
PubMed: 15284596 · DOI: 10.1097/01.mph.0000135284.85292.2c

Amino-acid property change

Residue substitution
A → V at 250
AlphaMissense score
0.5426
Uncertain
CSV class: Amb
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → nonpolar (unchanged)
Size
small → medium
Residue type
aliphatic → aliphatic (unchanged)
Typical protein position
buried → buried (unchanged)
Hydropathy index
1.8 → 4.2
Molecular weight
89.1 → 117.1
Original residue details
A · alanine
code: Ala
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: small
type: aliphatic
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 250 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Japan (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
none (1)
ADAMTS13 activity
n=1; median=3; range=3–3
Age of onset
Not available
Age of diagnosis
n=1; median=51; range=51–51
Platelet count
n=1; median=70; range=70–70

Variant fields

mut_syn_HGVS
c.749C>T
cdna_numb_HGVS
749
cdna_numb_legacy
749
nt_change
C>T
n_bp
1
nuc_numb
749
g_numb
g16
aa_numb_HGVS
250
aa_numb_legacy
250
aa_first
Ala
aa_last
Val
aa_syn
p.Ala250Val
codon_first
GCT
codon_last
GTT
coordinate_GRCh38
133428696
gnomAD_AC
1
gnomAD_AN
1361142
gnomAD_AF
7.33E-07
clinvar_id
5818
clinvar_classification
Pathogenic
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
71, 174

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
121 292 . 174 cTTP compound_heterozygous Japan male unknown 51 <3 70 no none none