Variant detail

mut_id 314 · c.1313G>T · p.Cys438Phe

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Evidence at a glance

0
Linked patients
0
Patient-variant records
2
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point missense_variant Residue 438 AlphaMissense key C438F
HGVS
c.1313G>T
Protein change
p.Cys438Phe
rsID
rs1841265398
Location
exon 12
gnomAD AF
0.00000255
Domain
TSP type-1 1
Gene
ADAMTS13

External links

dbSNP

References

Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review
Authors: Beauvais D, Venditti L, Chassin O, Joly B, Ameri A, Boisseau P, Lambotte O, Coppo P, Veyradier A, Denier C.
Source: J Stroke Cerebrovasc Dis (2019)
Citation: J Stroke Cerebrovasc Dis. 2019 Jun;28(6):1537-1539. doi: 10.1016/j.jstrokecerebrovasdis.2019.03.011. Epub 2019 Mar 28.
PubMed: 30930238 · DOI: 10.1016/j.jstrokecerebrovasdis.2019.03.011
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
C → F at 438
AlphaMissense score
0.9046
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
medium → large
Residue type
Unknown → aromatic
Typical protein position
buried → buried (unchanged)
Hydropathy index
2.5 → 2.8
Molecular weight
121.2 → 165.2
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
F · phenylalanine
code: Phe
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aromatic

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 438 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 1
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.1313G>T
cdna_numb_HGVS
1313
cdna_numb_legacy
1313
nt_change
G>T
n_bp
1
nuc_numb
1313
g_numb
g16
aa_numb_HGVS
438
aa_numb_legacy
438
aa_first
Cys
aa_last
Phe
aa_syn
p.Cys438Phe
codon_first
TGC
codon_last
TTC
gnomAD_AC
4
gnomAD_AN
1568512
gnomAD_AF
0.00000255
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 205

Patients linked by mut_id

No linked patients found.