Variant detail

mut_id 301 · c.1039T>A · p.Cys347Ser

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Evidence at a glance

0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point missense_variant Not provided Residue 347 AlphaMissense key C347S
HGVS
c.1039T>A
Protein change
p.Cys347Ser
rsID
rs281875294
ClinVar ID
68798
GRCh38 coordinate
133432639
Location
exon 9
gnomAD AF
6.41E-07
Domain
Disintegrin
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura
Authors: Donadelli R, Banterla F, Galbusera M, Capoferri C, Bucchioni S, Gastoldi S, Nosari S, Monteferrante G, Ruggeri ZM, Bresin E, Scheiflinger F, Rossi E, Martinez C, Coppo R, Remuzzi G, Noris M; International Registry of Recurrent and Familial HUS/TTP.
Source: Thromb Haemost (2006)
Citation: Thromb Haemost. 2006 Oct;96(4):454-64.
PubMed: 17003922

Amino-acid property change

Residue substitution
C → S at 347
AlphaMissense score
0.9712
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 347 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Disintegrin
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.1039T>A
cdna_numb_HGVS
1039
cdna_numb_legacy
1039
nt_change
T>A
n_bp
1
nuc_numb
1039
g_numb
g16
aa_numb_HGVS
347
aa_numb_legacy
347
aa_first
Cys
aa_last
Ser
aa_syn
p.Cys347Ser
codon_first
TGC
codon_last
AGC
coordinate_GRCh38
133432639
gnomAD_AC
1
gnomAD_AN
1559254
gnomAD_AF
6.41E-07
clinvar_id
68798
clinvar_classification
Not provided
g_id
g16
g_name
ADAMTS13
comments
not provided
refState
complete
ref_id
164

Patients linked by mut_id

No linked patients found.