Variant detail

mut_id 319 · c.1523G>A · p.Cys508Tyr

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Evidence at a glance

1
Linked patients
1
Patient-variant records
4
Linked references
1
Countries reported
cTTP (1)
Common phenotype
compound_heterozygous (1)
Common zygosity

Summary

Point missense_variant Residue 508 AlphaMissense key C508Y
HGVS
c.1523G>A
Protein change
p.Cys508Tyr
rsID
rs281875305
Location
exon 13
gnomAD AF
0.00000185
Domain
Cysteine-rich
Gene
ADAMTS13

External links

dbSNP

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
von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP
Authors: Schneppenheim R, Budde U, Oyen F, Angerhaus D, Aumann V, Drewke E, Hassenpflug W, Häberle J, Kentouche K, Kohne E, Kurnik K, Mueller-Wiefel D, Obser T, Santer R, Sykora KW.
Source: Blood (2003)
Citation: Blood. 2003 Mar 1;101(5):1845-50. doi: 10.1182/blood-2002-08-2399. Epub 2002 Oct 17.
PubMed: 12393505 · DOI: 10.1182/blood-2002-08-2399
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
A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity
Authors: Hunt R, Hettiarachchi G, Katneni U, Hernandez N, Holcomb D, Kames J, Alnifaidy R, Lin B, Hamasaki-Katagiri N, Wesley A, Kafri T, Morris C, Bouché L, Panico M, Schiller T, Ibla J, Bar H, Ismail A, Morris H, Komar A, Kimchi-Sarfaty C.
Source: Int J Mol Sci (2019)
Citation: Int J Mol Sci. 2019 Nov 15;20(22):5734. doi: 10.3390/ijms20225734.
PubMed: 31731663 · DOI: 10.3390/ijms20225734

Amino-acid property change

Residue substitution
C → Y at 508
AlphaMissense score
0.9512
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
Unknown → aromatic
Typical protein position
buried → surface
Hydropathy index
2.5 → -1.3
Molecular weight
121.2 → 181.2
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
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 508 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Cysteine-rich
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Japan (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
unknown (1)
Triggers
unknown (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=0.5; range=0.5–0.5
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
Not available
Platelet count
n=1; median=8; range=8–8

Variant fields

mut_syn_HGVS
c.1523G>A
cdna_numb_HGVS
1523
cdna_numb_legacy
1523
nt_change
G>A
n_bp
1
nuc_numb
1523
g_numb
g16
aa_numb_HGVS
508
aa_numb_legacy
508
aa_first
Cys
aa_last
Tyr
aa_syn
p.Cys508Tyr
codon_first
TGT
codon_last
TAT
gnomAD_AC
3
gnomAD_AN
1614000
gnomAD_AF
0.00000185
g_id
g16
g_name
ADAMTS13
comments
not provided
refState
complete
ref_id
71, 187, 205, 214

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
138 319 296 214 cTTP compound_heterozygous Japan male <1 unknown <0.5 8 unknown unknown unknown