Variant detail

mut_id 89 · c.1928T>G · p.Ile643Ser

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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 643 AlphaMissense key I643S
HGVS
c.1928T>G
Protein change
p.Ile643Ser
GRCh38 coordinate
133440484
Location
exon 16
Domain
Spacer
Gene
ADAMTS13

External links

gnomAD

References

De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura
Authors: Alharbi I, Alqarni S, Khayyat W, Almatrafi A.
Source: Case Rep Hematol (2021)
Citation: Case Rep Hematol. 2021 Jul 6;2021:5516863. doi: 10.1155/2021/5516863. eCollection 2021.
PubMed: 34306773 · DOI: 10.1155/2021/5516863

Amino-acid property change

Residue substitution
I → S at 643
AlphaMissense score
0.8881
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → polar
Size
large → small
Residue type
aliphatic → Unknown
Typical protein position
buried → surface
Hydropathy index
4.5 → -0.8
Molecular weight
131.2 → 105.0
Original residue details
I · isoleucine
code: Ile
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aliphatic
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 643 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Spacer
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.1928T>G
cdna_numb_HGVS
1928
cdna_numb_legacy
1928
nt_change
T>G
n_bp
1
nuc_numb
1928
g_numb
g16
aa_numb_HGVS
643
aa_numb_legacy
643
aa_first
Ile
aa_last
Ser
aa_syn
p.Ile643Ser
codon_first
ATC
codon_last
AGC
coordinate_GRCh38
133440484
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
41

Patients linked by mut_id

No linked patients found.