Variant detail

mut_id 329 · c.1976G>A · p.Arg659Lys

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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 659 AlphaMissense key R659K
HGVS
c.1976G>A
Protein change
p.Arg659Lys
rsID
rs150764227
Location
exon 17
gnomAD AF
0.0002441
Domain
Spacer
Gene
ADAMTS13

External links

dbSNP

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
R → K at 659
AlphaMissense score
0.5493
Uncertain
CSV class: Amb
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
postive → postive (unchanged)
Polarity
polar → polar (unchanged)
Size
large → large (unchanged)
Residue type
basic → basic (unchanged)
Typical protein position
surface → surface (unchanged)
Hydropathy index
-4.5 → -3.9
Molecular weight
174.2 → 146.2
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
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 659 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Spacer
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.1976G>A
cdna_numb_HGVS
1976
cdna_numb_legacy
1976
nt_change
G>A
n_bp
1
nuc_numb
1976
g_numb
g16
aa_numb_HGVS
659
aa_numb_legacy
659
aa_first
Arg
aa_last
Lys
aa_syn
p.Arg659Lys
codon_first
AGG
codon_last
AAG
gnomAD_AC
394
gnomAD_AN
1613830
gnomAD_AF
0.0002441
g_id
g16
g_name
ADAMTS13
comments
Uncertain significance
refState
complete
ref_id
72, 332

Patients linked by mut_id

No linked patients found.