Variant detail

mut_id 6 · c.262G>A · p.Val88Met

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Evidence at a glance

6
Linked patients
6
Patient-variant records
7
Linked references
2
Countries reported
cTTP (6)
Common phenotype
compound_heterozygous (5)
Common zygosity

Summary

Point missense_variant conflicting Residue 88 AlphaMissense key V88M
HGVS
c.262G>A
Protein change
p.Val88Met
rsID
rs281875302
ClinVar ID
68812
GRCh38 coordinate
133424410
Location
exon 3
gnomAD AF
0.00000557
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
Congenital thrombotic thrombocytopenic purpura related to a novel mutation in ADAMTS13 gene and management during pregnancy
Authors: Epperla N, Hemauer K, Friedman KD, George JN, Foy P.
Source: Am J Hematol (2016)
Citation: Am J Hematol. 2016 Jun;91(6):644-6. doi: 10.1002/ajh.24311.
PubMed: 26822222 · DOI: 10.1002/ajh.24311
[Thrombotic thrombocytopenic purpura in a newborn]
Authors: Sudour H, Rouabah M, Mansuy L, Bordigoni P, Hascoet JM.
Source: Arch Pediatr (2007)
Citation: Arch Pediatr. 2007 Jan;14(1):39-42. doi: 10.1016/j.arcped.2006.10.016. Epub 2006 Nov 28.
PubMed: 17137768 · DOI: 10.1016/j.arcped.2006.10.016
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
[Thrombotic thrombocytopenic purpura in children -- pathophysiologic mechanisms and their clinical significance]
Authors: Korczowski B.
Source: Med Wieku Rozwoj (2005)
Citation: Med Wieku Rozwoj. 2005 Oct-Dec;9(4):753-61.
PubMed: 16733283
The frequency of P475S polymorphism in von Willebrand factor-cleaving protease in the Chinese population and its relevance to arterial thrombotic disorders
Authors: Ruan C, Dai L, Su J, Wang Z, Ruan C.
Source: Thromb Haemost (2004)
Citation: Thromb Haemost. 2004 Jun;91(6):1257-8.
PubMed: 15175818
PB0312 - A novel ADAMTS13 variant found in a patient with Congenital Thrombotic Thrombocytopenic Purpura
Source: ISTH 2024 (2024)
PubMed: ISTH 2024

Amino-acid property change

Residue substitution
V → M at 88
AlphaMissense score
0.4427
Uncertain
CSV class: Amb
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → nonpolar (unchanged)
Size
medium → large
Residue type
aliphatic → Unknown
Typical protein position
buried → buried (unchanged)
Hydropathy index
4.2 → 1.9
Molecular weight
117.1 → 149.2
Original residue details
V · valine
code: Val
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
type: aliphatic
Variant residue details
M · methionine
code: Met
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
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 88 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Italy (5); Norway (1)
Phenotype
cTTP (6)
Zygosity
compound_heterozygous (5); homozygous (1)
Sex
female (4); male (2)
Pregnancy-related
no (2); yes (2)
Triggers
none (3); pregnancy (2); unknown (1)
Treatment
unknown (4); none (2)
ADAMTS13 activity
n=6; median=6.5; range=1.6–11.9
Age of onset
n=3; median=23; range=23–70
Age of diagnosis
n=1; median=74; range=74–74
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.262G>A
cdna_numb_HGVS
262
cdna_numb_legacy
262
nt_change
G>A
n_bp
1
nuc_numb
262
g_numb
g16
aa_numb_HGVS
88
aa_numb_legacy
88
aa_first
Val
aa_last
Met
aa_syn
p.Val88Met
codon_first
GTG
codon_last
ATG
coordinate_GRCh38
133424410
gnomAD_AC
9
gnomAD_AN
1613586
gnomAD_AF
0.00000557
clinvar_id
68812
clinvar_classification
conflicting
g_id
g16
g_name
ADAMTS13
comments
Conflicting interpretations of pathogenicity
refState
complete
ref_id
71, 95, 163, 233, 273, 277, 306

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
85 6 . 95 cTTP homozygous Norway male 70 74 11.9 unknown no unknown none
135 6 374 277 cTTP compound_heterozygous Italy female unknown unknown <6.5 unknown none unknown
136 6 374 277 cTTP compound_heterozygous Italy female unknown unknown <6.5 unknown none unknown
137 6 374 277 cTTP compound_heterozygous Italy male unknown unknown 7 unknown no none unknown
210 6 152 233 cTTP compound_heterozygous Italy female 23 unknown <6 unknown yes pregnancy none
234 6 374 273 cTTP compound_heterozygous Italy female 23 unknown <1.6 unknown yes pregnancy unknown