Variant detail

mut_id 47 · c.972C>A · p.Phe324Leu

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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 324 AlphaMissense key F324L
HGVS
c.972C>A
Protein change
p.Phe324Leu
rsID
rs782268976
GRCh38 coordinate
133430086
Location
exon 8
gnomAD AF
0.00000314
Domain
Disintegrin
Gene
ADAMTS13

External links

dbSNP gnomAD

References

Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China
Authors: Zhang L, Yu J, Xian Y, Wen X, Guan X, Guo Y, Luo M, Dou Y.
Source: J Clin Lab Anal (2021)
Citation: J Clin Lab Anal. 2021 Aug;35(8):e23896. doi: 10.1002/jcla.23896. Epub 2021 Jul 8.
PubMed: 34237177 · DOI: 10.1002/jcla.23896

Amino-acid property change

Residue substitution
F → L at 324
AlphaMissense score
0.9475
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → nonpolar (unchanged)
Size
large → large (unchanged)
Residue type
aromatic → aliphatic
Typical protein position
buried → buried (unchanged)
Hydropathy index
2.8 → 3.8
Molecular weight
165.2 → 131.2
Original residue details
F · phenylalanine
code: Phe
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aromatic
Variant residue details
L · leucine
code: Leu
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aliphatic

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 324 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.972C>A
cdna_numb_HGVS
972
cdna_numb_legacy
972
nt_change
C>A
n_bp
1
nuc_numb
972
g_numb
g16
aa_numb_HGVS
324
aa_numb_legacy
324
aa_first
Phe
aa_last
Leu
aa_syn
p.Phe324Leu
codon_first
TTC
codon_last
TTA
coordinate_GRCh38
133430086
gnomAD_AC
5
gnomAD_AN
1589716
gnomAD_AF
0.00000314
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
205

Patients linked by mut_id

No linked patients found.