Variant detail

mut_id 76 · c.1564T>C · p.Cys522Arg

Back Advanced search Full table

Evidence at a glance

2
Linked patients
2
Patient-variant records
3
Linked references
1
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (2)
Common zygosity

Summary

Point missense_variant Residue 522 AlphaMissense key C522R
HGVS
c.1564T>C
Protein change
p.Cys522Arg
GRCh38 coordinate
133437877
Location
exon 13
Domain
Cysteine-rich
Gene
ADAMTS13

External links

gnomAD

References

Upshaw-Schulman syndrome-associated ADAMTS13 variants possess proteolytic activity at the surface of endothelial cells and in simulated circulation
Authors: Letzer A, Lehmann K, Mess C, König G, Obser T, Peine S, Schneppenheim S, Budde U, Schneider SW, Schneppenheim R, Brehm MA.
Source: PLoS One (2020)
Citation: PLoS One. 2020 May 4;15(5):e0232637. doi: 10.1371/journal.pone.0232637. eCollection 2020.
PubMed: 32365113 · DOI: 10.1371/journal.pone.0232637
Characterization and treatment of congenital thrombotic thrombocytopenic purpura
Authors: Alwan F, Vendramin C, Liesner R, Clark A, Lester W, Dutt T, Thomas W, Gooding R, Biss T, Watson HG, Cooper N, Rayment R, Cranfield T, van Veen JJ, Hill QA, Davis S, Motwani J, Bhatnagar N, Priddee N, David M, Crowley MP, Alamelu J, Lyall H, Westwood JP, Thomas M, Scully M.
Source: Blood (2019)
Citation: Blood. 2019 Apr 11;133(15):1644-1651. doi: 10.1182/blood-2018-11-884700. Epub 2019 Feb 15.
PubMed: 30770395 · DOI: 10.1182/blood-2018-11-884700
Upshaw-Schulman syndrome-associated ADAMTS13 variants possess proteolytic activity at the surface of endothelial cells and in simulated circulation
Authors: Letzer A, Lehmann K, Mess C, König G, Obser T, Peine S, Schneppenheim S, Budde U, Schneider SW, Schneppenheim R, Brehm MA
Source: PloS One (2020)
Citation: PLoS One. 2020 May 4;15(5):e0232637. doi: 10.1371/journal.pone.0232637.
PubMed: 32365113 · DOI: 10.1371/journal.pone.0232637

Amino-acid property change

Residue substitution
C → R at 522
AlphaMissense score
0.9736
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 522 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Cysteine-rich
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
China (2)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
female (2)
Pregnancy-related
no (2)
Triggers
none (2)
Treatment
unknown (2)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=2; median=1; range=1–1
Age of diagnosis
n=2; median=1; range=1–1
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.1564T>C
cdna_numb_HGVS
1564
cdna_numb_legacy
1564
nt_change
T>C
n_bp
1
nuc_numb
1564
g_numb
g16
aa_numb_HGVS
522
aa_numb_legacy
522
aa_first
Cys
aa_last
Arg
aa_syn
p.Cys522Arg
codon_first
TGT
codon_last
CGT
coordinate_GRCh38
133437877
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
58, 73, 304

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
255 76 214 304 cTTP compound_heterozygous China female <1 1 <5 unknown no none unknown
309 76 214 58 cTTP compound_heterozygous China female <1 <1 unknown unknown no none unknown