Variant detail

mut_id 71 · c.1423C>T · p.Pro475Ser

Back Advanced search Full table

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 Conflicting classifications of pathogenicity Residue 475 AlphaMissense key P475S
HGVS
c.1423C>T
Protein change
p.Pro475Ser
rsID
rs11575933
ClinVar ID
5814
GRCh38 coordinate
133436943
Location
exon 12
gnomAD AF
0.002441
Domain
Cysteine-rich
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

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

Amino-acid property change

Residue substitution
P → S at 475
AlphaMissense score
0.0867
Likely benign
CSV class: LBen
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → polar
Size
medium → small
Residue type
Not available
Typical protein position
surface → surface (unchanged)
Hydropathy index
-1.6 → -0.8
Molecular weight
115.1 → 105.0
Original residue details
P · proline
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
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 475 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Cysteine-rich
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.1423C>T
cdna_numb_HGVS
1423
cdna_numb_legacy
1423
nt_change
C>T
n_bp
1
nuc_numb
1423
g_numb
g16
aa_numb_HGVS
475
aa_numb_legacy
475
aa_first
Pro
aa_last
Ser
aa_syn
p.Pro475Ser
codon_first
CCA
codon_last
TCA
coordinate_GRCh38
133436943
gnomAD_AC
3897
gnomAD_AN
1596632
gnomAD_AF
0.002441
clinvar_id
5814
clinvar_classification
Conflicting classifications of pathogenicity
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
187

Patients linked by mut_id

No linked patients found.