Variant detail

mut_id 114 · c.2723G>C · p.Cys908Ser

Back Advanced search Full table

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 908 AlphaMissense key C908S
HGVS
c.2723G>C
Protein change
p.Cys908Ser
GRCh38 coordinate
133445811
Location
exon 21
Domain
TSP type-1 5
Gene
ADAMTS13

External links

gnomAD

References

An enzyme immunoassay of ADAMTS13 distinguishes patients with thrombotic thrombocytopenic purpura from normal individuals and carriers of ADAMTS13 mutations
Authors: Zhou W, Tsai HM.
Source: Thromb Haemost (2004)
Citation: Thromb Haemost. 2004 Apr;91(4):806-11. doi: 10.1160/TH03-11-0675.
PubMed: 15045144 · DOI: 10.1160/TH03-11-0675

Amino-acid property change

Residue substitution
C → S at 908
AlphaMissense score
0.8809
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 908 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 5
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
France (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=23; range=23–23
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.2723G>C
cdna_numb_HGVS
2723
cdna_numb_legacy
2723
nt_change
G>C
n_bp
1
nuc_numb
2723
g_numb
g16
aa_numb_HGVS
908
aa_numb_legacy
908
aa_first
Cys
aa_last
Ser
aa_syn
p.Cys908Ser
codon_first
TGC
codon_last
TCC
coordinate_GRCh38
133445811
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
176

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
263 114 . 176 cTTP compound_heterozygous France male <1 23 <5 unknown no none unknown