Variant detail

mut_id 100 · c.2188C>T · p.Pro730Ser

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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 Residue 730 AlphaMissense key P730S
HGVS
c.2188C>T
Protein change
p.Pro730Ser
GRCh38 coordinate
133442697
Location
exon 18
Domain
TSP type-1 2
Gene
ADAMTS13

External links

gnomAD

References

NEPHRO-ZEBRA-a neonate with severe jaundice, persistent thrombocytopenia & recurrent acute kidney injury later in childhood: Joining the dots!
Authors: Sethi SK, Yadav SP, Moideen A, Raina R.
Source: J Nephrol (2024)
Citation: J Nephrol. 2024 Apr;37(3):827-829. doi: 10.1007/s40620-023-01848-w. Epub 2024 Jan 25.
PubMed: 38267796 · DOI: 10.1007/s40620-023-01848-w

Amino-acid property change

Residue substitution
P → S at 730
AlphaMissense score
0.3176
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 730 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 2
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.2188C>T
cdna_numb_HGVS
2188
cdna_numb_legacy
2188
nt_change
C>T
n_bp
1
nuc_numb
2188
g_numb
g16
aa_numb_HGVS
730
aa_numb_legacy
730
aa_first
Pro
aa_last
Ser
aa_syn
p.Pro730Ser
codon_first
CCA
codon_last
TCA
coordinate_GRCh38
133442697
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
7

Patients linked by mut_id

No linked patients found.