Variant detail

mut_id 308 · c.1190C>T · p.Ser397Phe

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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 397 AlphaMissense key S397F
HGVS
c.1190C>T
Protein change
p.Ser397Phe
rsID
rs1564418207
GRCh38 coordinate
133433475
Location
exon 10
gnomAD AF
6.8428E-07
Domain
TSP type-1 1
Gene
ADAMTS13

External links

dbSNP gnomAD

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
S → F at 397
AlphaMissense score
0.9026
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
small → large
Residue type
Unknown → aromatic
Typical protein position
surface → buried
Hydropathy index
-0.8 → 2.8
Molecular weight
105.0 → 165.2
Original residue details
S · serine
code: Ser
hydro: hydrophilic
charge: neutral
polarity: polar
size: small
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 397 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.1190C>T
cdna_numb_HGVS
1190
cdna_numb_legacy
1190
nt_change
C>T
n_bp
1
nuc_numb
1190
g_numb
g16
aa_numb_HGVS
397
aa_numb_legacy
397
aa_first
Ser
aa_last
Phe
aa_syn
p.Ser397Phe
codon_first
TCC
codon_last
TTC
coordinate_GRCh38
133433475
gnomAD_AC
1
gnomAD_AN
1613622
gnomAD_AF
6.8428E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 205

Patients linked by mut_id

No linked patients found.