Variant detail

mut_id 15 · c.334delG · p.Ala111GlnfsTer18

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Evidence at a glance

2
Linked patients
2
Patient-variant records
2
Linked references
2
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (1)
Common zygosity

Summary

Deletion Deletion Residue 111 AlphaMissense key A111Q
HGVS
c.334delG
Protein change
p.Ala111GlnfsTer18
GRCh38 coordinate
133425527
Location
exon 4
gnomAD AF
6.20E-07
Domain
Metalloprotease
Gene
ADAMTS13

External links

gnomAD

References

Mutations and Common Polymorphisms in ADAMTS13 and vWF Genes Responsible for Increasing Risk of Thrombosis
Authors: Haybar H, Khodadi E, Kavianpour M, Saki N.
Source: Cardiovasc Hematol Disord Drug Targets (2018)
Citation: Cardiovasc Hematol Disord Drug Targets. 2018;18(3):176-181. doi: 10.2174/1871529X18666180419102214.
PubMed: 29669506 · DOI: 10.2174/1871529X18666180419102214
ADAMTS13 and its variants promote angiogenesis via upregulation of VEGF and VEGFR2
Authors: Lee M, Keener J, Xiao J, Long Zheng X, Rodgers GM.
Source: Cell Mol Life Sci (2015)
Citation: Cell Mol Life Sci. 2015 Jan;72(2):349-56. doi: 10.1007/s00018-014-1667-3. Epub 2014 Jun 21.
PubMed: 24950743 · DOI: 10.1007/s00018-014-1667-3

Amino-acid property change

Residue substitution
A → Q at 111
AlphaMissense score
Not available
No local AlphaMissense row found for A111Q.
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → polar
Size
small → large
Residue type
aliphatic → Unknown
Typical protein position
buried → surface
Hydropathy index
1.8 → -3.5
Molecular weight
89.1 → 146.1
Original residue details
A · alanine
code: Ala
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: small
type: aliphatic
Variant residue details
Q · glutamine
code: Gln
hydro: hydrophilic
charge: neutral
polarity: polar
size: large
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 111 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
UK (1); Germany (1)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (1); heterozygous (1)
Sex
female (1); male (1)
Pregnancy-related
yes (1); no (1)
Triggers
pregnancy (1); none (1)
Treatment
unknown (1); PI (1)
ADAMTS13 activity
n=1; median=3; range=3–3
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.334delG
cdna_numb_HGVS
334
cdna_numb_legacy
334
nt_change
Deletion
n_bp
1
nuc_numb
334
g_numb
g16
aa_numb_HGVS
111
aa_numb_legacy
111
aa_first
Ala
aa_last
Gln
aa_syn
p.Ala111GlnfsTer18
codon_first
AG
codon_last
A
coordinate_GRCh38
133425527
gnomAD_AC
1
gnomAD_AN
1612714
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
220, 239

Patients linked by mut_id

patient_id mut_id compound_partner_mut_id ref_id phenotype zygosity country sex age_of_onset age_of_diagnosis ad13_activity platelet_count pregnancy_related triggers treatment
181 15 133 239 cTTP compound_heterozygous UK female unknown unknown unknown unknown yes pregnancy unknown
326 15 . 220 cTTP heterozygous Germany male <1 unknown <3 unknown no none PI