Variant detail

mut_id 287 · c.697G>A · p.Glu233Lys

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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 233 AlphaMissense key E233K
HGVS
c.697G>A
Protein change
p.Glu233Lys
rsID
rs1047417075
GRCh38 coordinate
133428644
Location
exon 7
gnomAD AF
0.00000222
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP 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
E → K at 233
AlphaMissense score
0.2218
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
negative → postive
Polarity
polar → polar (unchanged)
Size
large → large (unchanged)
Residue type
acidic → basic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -3.9
Molecular weight
147.1 → 146.2
Original residue details
E · glutamic acid
code: Glu
hydro: hydrophilic
charge: negative
polarity: polar
size: large
type: acidic
Variant residue details
K · lysine
code: Lys
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic

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 233 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.697G>A
cdna_numb_HGVS
697
cdna_numb_legacy
697
nt_change
G>A
n_bp
1
nuc_numb
697
g_numb
g16
aa_numb_HGVS
233
aa_numb_legacy
233
aa_first
Glu
aa_last
Lys
aa_syn
p.Glu233Lys
codon_first
GAG
codon_last
AAG
coordinate_GRCh38
133428644
gnomAD_AC
3
gnomAD_AN
1349594
gnomAD_AF
0.00000222
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
72

Patients linked by mut_id

No linked patients found.