Variant detail

mut_id 11 · c.291G>T · p.Gln97His

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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 97 AlphaMissense key Q97H
HGVS
c.291G>T
Protein change
p.Gln97His
GRCh38 coordinate
133424438
Location
exon 3
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
Q → H at 97
AlphaMissense score
0.1925
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → postive
Polarity
polar → polar (unchanged)
Size
large → large (unchanged)
Residue type
Unknown → aromatic/basic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -3.2
Molecular weight
146.1 → 155.2
Original residue details
Q · glutamine
code: Gln
hydro: hydrophilic
charge: neutral
polarity: polar
size: large
type:
Variant residue details
H · histidine
code: His
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: aromatic/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 97 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.291G>T
cdna_numb_HGVS
291
cdna_numb_legacy
291
nt_change
G>T
n_bp
1
nuc_numb
291
g_numb
g16
aa_numb_HGVS
97
aa_numb_legacy
97
aa_first
Gln
aa_last
His
aa_syn
p.Gln97His
codon_first
CAG
codon_last
CAT
coordinate_GRCh38
133424438
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
72

Patients linked by mut_id

No linked patients found.