Variant detail

mut_id 289 · c.703G>T · p.Asp235Tyr

Back Advanced search Full table

Evidence at a glance

2
Linked patients
2
Patient-variant records
3
Linked references
2
Countries reported
cTTP (2)
Common phenotype
homozygous (1)
Common zygosity

Summary

Point missense_variant Conflicting classifications of pathogenicity Residue 235 AlphaMissense key D235Y
HGVS
c.703G>T
Protein change
p.Asp235Tyr
rsID
rs281875337
ClinVar ID
2136831
GRCh38 coordinate
133428650
Location
exon 7
gnomAD AF
0.00000228
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

Mutations and Common Polymorphisms in ADAMTS13 and vWF Genes Responsible for Increasing Risk of Thrombosis
Authors: Haybar H, Khodadi E, Kavianpour M, Saki N.
Source: Cardiovasc Hematol Disord Drug Targets (2018)
Citation: Cardiovasc Hematol Disord Drug Targets. 2018;18(3):176-181. doi: 10.2174/1871529X18666180419102214.
PubMed: 29669506 · DOI: 10.2174/1871529X18666180419102214
Congenital late onset thrombotic thrombocytopenic purpura: a diagnostic challenge
Authors: Enjeti AK, Chapman K, Taylor PJ, Meldrum C.
Source: Pathology (2015)
Citation: Pathology. 2015 Oct;47(6):585-6. doi: 10.1097/PAT.0000000000000303.
PubMed: 26352112 · DOI: 10.1097/PAT.0000000000000303
Two cases of congenital thrombotic thrombocytopenicpurpura associated with pregnancy
Authors: Bai X*, Su J, Yu Z, Wang Z and Ruan C
Source: ISTH 2012 (2012)
Citation: ISTH 2012
PubMed: ISTH 2012

Amino-acid property change

Residue substitution
D → Y at 235
AlphaMissense score
0.9331
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
negative → neutral
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
acidic → aromatic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -1.3
Molecular weight
133.1 → 181.2
Original residue details
D · aspartic acid
code: Asp
hydro: hydrophilic
charge: negative
polarity: polar
size: medium
type: acidic
Variant residue details
Y · tyrosine
code: Tyr
hydro: hydrophobic
charge: neutral
polarity: polar
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 235 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Italy (1); Germany (1)
Phenotype
cTTP (2)
Zygosity
homozygous (1); compound_heterozygous (1)
Sex
female (2)
Pregnancy-related
yes (1); unknown (1)
Triggers
pregnancy (1); none (1)
Treatment
on-demand PI (2)
ADAMTS13 activity
n=2; median=4; range=2–6
Age of onset
n=2; median=20.5; range=17–24
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.703G>T
cdna_numb_HGVS
703
cdna_numb_legacy
703
nt_change
G>T
n_bp
1
nuc_numb
703
g_numb
g16
aa_numb_HGVS
235
aa_numb_legacy
235
aa_first
Asp
aa_last
Tyr
aa_syn
p.Asp235Tyr
codon_first
GAC
codon_last
TAC
coordinate_GRCh38
133428650
gnomAD_AC
3
gnomAD_AN
1315750
gnomAD_AF
0.00000228
clinvar_id
2136831
clinvar_classification
Conflicting classifications of pathogenicity
g_id
g16
g_name
ADAMTS13
comments
Uncertain significance
refState
complete
ref_id
220, 233, 312, 321

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
215 289 . 233 cTTP homozygous Italy female 24 unknown <6 unknown yes pregnancy on-demand PI
327 289 152 220 cTTP compound_heterozygous Germany female 17 unknown <2 unknown unknown none on-demand PI