Variant detail

mut_id 147 · c.3557T>C · p.Leu1186Ser

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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 1186 AlphaMissense key L1186S
HGVS
c.3557T>C
Protein change
p.Leu1186Ser
GRCh38 coordinate
133456552
Location
exon 27
Domain
Inter-domain / unassigned region
Gene
ADAMTS13

External links

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

Amino-acid property change

Residue substitution
L → S at 1186
AlphaMissense score
Not available
No local AlphaMissense row found for L1186S.
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → polar
Size
large → small
Residue type
aliphatic → Unknown
Typical protein position
buried → surface
Hydropathy index
3.8 → -0.8
Molecular weight
131.2 → 105.0
Original residue details
L · leucine
code: Leu
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 1186 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Inter-domain / unassigned region
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.3557T>C
cdna_numb_HGVS
3725
cdna_numb_legacy
3725
nt_change
T>C
n_bp
1
nuc_numb
3725
g_numb
g16
aa_numb_HGVS
1186
aa_numb_legacy
1186
aa_first
Leu
aa_last
Ser
aa_syn
p.Leu1186Ser
codon_first
TTG
codon_last
TCG
coordinate_GRCh38
133456552
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71

Patients linked by mut_id

No linked patients found.