Variant detail

mut_id 42 · c.796A>T · p.Ser266Cys

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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 266 AlphaMissense key S266C
HGVS
c.796A>T
Protein change
p.Ser266Cys
GRCh38 coordinate
133428743
Location
exon 7
gnomAD AF
0.00000295
Domain
Metalloprotease
Gene
ADAMTS13

External links

gnomAD

References

The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017
Authors: van Dorland HA, Taleghani MM, Sakai K, Friedman KD, George JN, Hrachovinova I, Knöbl PN, von Krogh AS, Schneppenheim R, Aebi-Huber I, Bütikofer L, Largiadèr CR, Cermakova Z, Kokame K, Miyata T, Yagi H, Terrell DR, Vesely SK, Matsumoto M, Lämmle B, Fujimura Y, Kremer Hovinga JA; Hereditary TTP Registry.
Source: Haematologica (2019)
Citation: Haematologica. 2019 Oct;104(10):2107-2115. doi: 10.3324/haematol.2019.216796. Epub 2019 Feb 21.
PubMed: 30792199 · DOI: 10.3324/haematol.2019.216796

Amino-acid property change

Residue substitution
S → C at 266
AlphaMissense score
0.9115
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
small → medium
Residue type
Not available
Typical protein position
surface → buried
Hydropathy index
-0.8 → 2.5
Molecular weight
105.0 → 121.2
Original residue details
S · serine
code: Ser
hydro: hydrophilic
charge: neutral
polarity: polar
size: small
type:
Variant residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
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 266 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.796A>T
cdna_numb_HGVS
796
cdna_numb_legacy
796
nt_change
A>T
n_bp
1
nuc_numb
796
g_numb
g16
aa_numb_HGVS
266
aa_numb_legacy
266
aa_first
Ser
aa_last
Cys
aa_syn
p.Ser266Cys
codon_first
AGC
codon_last
TGC
coordinate_GRCh38
133428743
gnomAD_AC
4
gnomAD_AN
1355842
gnomAD_AF
0.00000295
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
72

Patients linked by mut_id

No linked patients found.