Variant detail

mut_id 343 · c.2410T>C · p.Cys804Arg

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Evidence at a glance

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

Summary

Point missense_variant Residue 804 AlphaMissense key C804R
HGVS
c.2410T>C
Protein change
p.Cys804Arg
rsID
rs754909071
Location
exon 19
gnomAD AF
0.00000128
Domain
TSP type-1 3
Gene
ADAMTS13

External links

dbSNP

References

Blood film says it all! Rare case of congenital TTP misdiagnosed as ITP
Authors: Majeed Memon A, Ali N.
Source: Int J Pediatr Adolesc Med (2019)
Citation: Int J Pediatr Adolesc Med. 2019 Jun;6(2):58-60. doi: 10.1016/j.ijpam.2019.02.005. Epub 2019 Feb 20.
PubMed: 31388548 · DOI: 10.1016/j.ijpam.2019.02.005
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

Amino-acid property change

Residue substitution
C → R at 804
AlphaMissense score
0.6244
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → postive
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
Unknown → basic
Typical protein position
buried → surface
Hydropathy index
2.5 → -4.5
Molecular weight
121.2 → 174.2
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: 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 804 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 3
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Norway (3); Sweden (1)
Phenotype
cTTP (4)
Zygosity
compound_heterozygous (3); homozygous (1)
Sex
female (2); male (2)
Pregnancy-related
no (4)
Triggers
unknown (3); quetiapine (1)
Treatment
PI (4)
ADAMTS13 activity
n=4; median=1.8; range=1–4
Age of onset
n=4; median=16.5; range=1–51
Age of diagnosis
n=3; median=28; range=15–29
Platelet count
n=1; median=69; range=69–69

Variant fields

mut_syn_HGVS
c.2410T>C
cdna_numb_HGVS
2410
cdna_numb_legacy
2410
nt_change
T>C
n_bp
1
nuc_numb
2410
g_numb
g16
aa_numb_HGVS
804
aa_numb_legacy
804
aa_first
Cys
aa_last
Arg
aa_syn
p.Cys804Arg
codon_first
TGC
codon_last
CGC
gnomAD_AC
2
gnomAD_AN
1553726
gnomAD_AF
0.00000128
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
69, 71, 95

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
47 343 133 69 cTTP compound_heterozygous Sweden female 15 29 <4 69 no quetiapine PI
68 343 . 95 cTTP homozygous Norway female 1 15 <1 unknown no unknown PI
69 343 261 95 cTTP compound_heterozygous Norway male 51 unknown 1.8 unknown no unknown PI
70 343 272 95 cTTP compound_heterozygous Norway male 18 28 1.8 unknown no unknown PI