Variant detail

mut_id 141 · c.3368G>A · p.Arg1123His

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Evidence at a glance

3
Linked patients
3
Patient-variant records
5
Linked references
3
Countries reported
cTTP (3)
Common phenotype
compound_heterozygous (2)
Common zygosity

Summary

Point missense_variant Residue 1123 AlphaMissense key R1123H
HGVS
c.3368G>A
Protein change
p.Arg1123His
rsID
rs782311861
GRCh38 coordinate
133455403
Location
exon 25
gnomAD AF
0.00000558
Domain
TSP type-1 8
Gene
ADAMTS13

External links

dbSNP gnomAD

References

Hereditary Thrombotic Thrombocytopenic Purpura in a Chinese Boy With a Novel Compound Heterozygous Mutation of the ADAMTS13 Gene
Authors: Dai YL, Tang X, Chen HB, Peng QY, Guo X, Gao J.
Source: Front Pediatr (2020)
Citation: Front Pediatr. 2020 Sep 10;8:554. doi: 10.3389/fped.2020.00554. eCollection 2020.
PubMed: 33014938 · DOI: 10.3389/fped.2020.00554
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
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 with novel mutations in three unrelated Turkish children
Authors: Metin A, Unal S, Gümrük F, Palla R, Cairo A, Underwood M, Gurgey A.
Source: Pediatr Blood Cancer (2014)
Citation: Pediatr Blood Cancer. 2014 Mar;61(3):558-61. doi: 10.1002/pbc.24764. Epub 2013 Sep 30.
PubMed: 24115559 · DOI: 10.1002/pbc.24764
Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China
Authors: Zhang L, Yu J, Xian Y, Wen X, Guan X, Guo Y, Luo M, Dou Y.
Source: J Clin Lab Anal (2021)
Citation: J Clin Lab Anal. 2021 Aug;35(8):e23896. doi: 10.1002/jcla.23896. Epub 2021 Jul 8.
PubMed: 34237177 · DOI: 10.1002/jcla.23896

Amino-acid property change

Residue substitution
R → H at 1123
AlphaMissense score
0.1235
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
postive → postive (unchanged)
Polarity
polar → polar (unchanged)
Size
large → large (unchanged)
Residue type
basic → aromatic/basic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-4.5 → -3.2
Molecular weight
174.2 → 155.2
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
H · histidine
code: His
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: aromatic/basic

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 1123 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 8
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
China (1); Denmark (1); Portugal (1)
Phenotype
cTTP (3)
Zygosity
compound_heterozygous (2); homozygous (1)
Sex
female (2); male (1)
Pregnancy-related
yes (2); no (1)
Triggers
pregnancy (2); unknown (1)
Treatment
PI (2); unknown (1)
ADAMTS13 activity
n=2; median=5.5; range=1–10
Age of onset
n=3; median=24; range=3–26
Age of diagnosis
n=1; median=24; range=24–24
Platelet count
n=1; median=15; range=15–15

Variant fields

mut_syn_HGVS
c.3368G>A
cdna_numb_HGVS
3368
cdna_numb_legacy
3368
nt_change
G>A
n_bp
1
nuc_numb
3368
g_numb
g16
aa_numb_HGVS
1123
aa_numb_legacy
1123
aa_first
Arg
aa_last
His
aa_syn
p.Arg1123His
codon_first
CGT
codon_last
CAT
coordinate_GRCh38
133455403
gnomAD_AC
9
gnomAD_AN
1612658
gnomAD_AF
0.00000558
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
52, 71, 78, 119, 205

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
19 141 151 52 cTTP compound_heterozygous China female 24 24 unknown 15 yes pregnancy PI
93 141 191 119 cTTP compound_heterozygous Denmark male 3 unknown <1 unknown no unknown unknown
320 141 . 78 cTTP homozygous Portugal female 26 unknown <10 unknown yes pregnancy PI