Variant detail

mut_id 152 · c.3716G>T · p.Gly1239Val

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Evidence at a glance

4
Linked patients
4
Patient-variant records
7
Linked references
3
Countries reported
cTTP (4)
Common phenotype
homozygous (2)
Common zygosity

Summary

Point missense_variant Residue 1239 AlphaMissense key G1239V
HGVS
c.3716G>T
Protein change
p.Gly1239Val
Location
exon 27
Domain
CUB 1
Gene
ADAMTS13

References

A Case Report of Congenital Thrombotic Thrombocytopenic Purpura: The Peripheral Blood Smear Lights the Diagnosis
Authors: Toret E, Demir-Kolsuz O, Ozdemir ZC, Bor O.
Source: J Pediatr Hematol Oncol (2022)
Citation: J Pediatr Hematol Oncol. 2022 Jan 1;44(1):e243-e245. doi: 10.1097/MPH.0000000000002032.
PubMed: 33306605 · DOI: 10.1097/MPH.0000000000002032
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
[Novel ADAMTS13 compound heterozygous mutation in a patient with hereditary thrombotic thrombocytopenic purpura]
Authors: Wang CY, Fang XY, Shen Q.
Source: Zhonghua Er Ke Za Zhi (2016)
Citation: Zhonghua Er Ke Za Zhi. 2016 May;54(5):387-8. doi: 10.3760/cma.j.issn.0578-1310.2016.05.017.
PubMed: 27143085 · DOI: 10.3760/cma.j.issn.0578-1310.2016.05.017
[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
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
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
G → V at 1239
AlphaMissense score
0.4686
Uncertain
CSV class: Amb
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
small → medium
Residue type
aliphatic → aliphatic (unchanged)
Typical protein position
surface → buried
Hydropathy index
-0.4 → 4.2
Molecular weight
75.1 → 117.1
Original residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
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 1239 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: CUB 1
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Switzerland (2); Italy (1); Germany (1)
Phenotype
cTTP (4)
Zygosity
homozygous (2); compound_heterozygous (2)
Sex
male (2); female (2)
Pregnancy-related
no (2); yes (1); unknown (1)
Triggers
none (2); alcohol (1); pregnancy (1)
Treatment
unknown (1); none (1); on-demand PI (1); PI (1)
ADAMTS13 activity
n=4; median=1.5; range=1–6
Age of onset
n=2; median=20; range=17–23
Age of diagnosis
n=1; median=5; range=5–5
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.3716G>T
cdna_numb_HGVS
3716
cdna_numb_legacy
3716
nt_change
G>T
n_bp
1
nuc_numb
3716
g_numb
g16
aa_numb_HGVS
1239
aa_numb_legacy
1239
aa_first
Gly
aa_last
Val
aa_syn
p.Gly1239Val
codon_first
GGG
codon_last
GTG
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
48, 71, 93, 163, 220, 233, 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
103 152 . 93 cTTP homozygous Switzerland male unknown unknown <1 unknown no alcohol unknown
210 152 6 233 cTTP compound_heterozygous Italy female 23 unknown <6 unknown yes pregnancy none
327 152 289 220 cTTP compound_heterozygous Germany female 17 unknown <2 unknown unknown none on-demand PI
367 152 . 48 cTTP homozygous Switzerland male unknown 5 <1 unknown no none PI