Variant detail

mut_id 29 · c.623G>C · p.Cys208Ser

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Evidence at a glance

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

Summary

Point missense_variant Residue 208 AlphaMissense key C208S
HGVS
c.623G>C
Protein change
p.Cys208Ser
rsID
rs782442144
GRCh38 coordinate
133426282
Location
exon 6
gnomAD AF
6.21E-07
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP 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.
PubMed: 32365113 · DOI: 10.1371/journal.pone.0232637

Amino-acid property change

Residue substitution
C → S at 208
AlphaMissense score
0.9847
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
medium → small
Residue type
Not available
Typical protein position
buried → surface
Hydropathy index
2.5 → -0.8
Molecular weight
121.2 → 105.0
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
S · serine
code: Ser
hydro: hydrophilic
charge: neutral
polarity: polar
size: small
type:

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 208 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
China (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=4; range=4–4
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.623G>C
cdna_numb_HGVS
623
cdna_numb_legacy
623
nt_change
G>C
n_bp
1
nuc_numb
623
g_numb
g16
aa_numb_HGVS
208
aa_numb_legacy
208
aa_first
Cys
aa_last
Ser
aa_syn
p.Cys208Ser
codon_first
TGC
codon_last
TCC
coordinate_GRCh38
133426282
gnomAD_AC
1
gnomAD_AN
1610398
gnomAD_AF
6.21E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
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
256 29 65 304 cTTP compound_heterozygous China male <1 4 <5 unknown no none unknown