Variant detail

mut_id 333 · c.2068G>A · p.Ala690Thr

Back Advanced search Full table

Evidence at a glance

3
Linked patients
3
Patient-variant records
4
Linked references
2
Countries reported
cTTP (3)
Common phenotype
compound_heterozygous (3)
Common zygosity

Summary

Point missense_variant Residue 690 AlphaMissense key A690T
HGVS
c.2068G>A
Protein change
p.Ala690Thr
rsID
rs374840594
Location
exon 17
gnomAD AF
0.00001611
Domain
TSP type-1 2
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
Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura
Authors: Hing ZA, Schiller T, Wu A, Hamasaki-Katagiri N, Struble EB, Russek-Cohen E, Kimchi-Sarfaty C.
Source: Br J Haematol (2013)
Citation: Br J Haematol. 2013 Mar;160(6):825-37. doi: 10.1111/bjh.12214. Epub 2013 Jan 24.
PubMed: 23346910 · DOI: 10.1111/bjh.12214
Transfusion-dependent anaemia of undetermined origin: a distinctive syndrome in paediatric medical tourism
Authors: Lee AC.
Source: Ann Acad Med Singap (2012)
Citation: Ann Acad Med Singap. 2012 Jul;41(7):305-8.
PubMed: 22892608
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 → T at 690
AlphaMissense score
0.1271
Likely benign
CSV class: LBen
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → polar
Size
small → medium
Residue type
aliphatic → Unknown
Typical protein position
buried → surface
Hydropathy index
1.8 → -0.7
Molecular weight
89.1 → 119.1
Original residue details
A · alanine
code: Ala
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: small
type: aliphatic
Variant residue details
T · threonine
code: Thr
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 690 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 2
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
UK (2); USA (1)
Phenotype
cTTP (3)
Zygosity
compound_heterozygous (3)
Sex
female (3)
Pregnancy-related
yes (3)
Triggers
pregnancy (3)
Treatment
unknown (2); on demand PI (1)
ADAMTS13 activity
n=2; median=5; range=5–5
Age of onset
n=2; median=20.5; range=20–21
Age of diagnosis
n=1; median=21; range=21–21
Platelet count
n=1; median=9; range=9–9

Variant fields

mut_syn_HGVS
c.2068G>A
cdna_numb_HGVS
2068
cdna_numb_legacy
2068
nt_change
G>A
n_bp
1
nuc_numb
2068
g_numb
g16
aa_numb_HGVS
690
aa_numb_legacy
690
aa_first
Ala
aa_last
Thr
aa_syn
p.Ala690Thr
codon_first
GCT
codon_last
ACT
gnomAD_AC
26
gnomAD_AN
1613686
gnomAD_AF
0.00001611
g_id
g16
g_name
ADAMTS13
comments
Likely pathogenic
refState
complete
ref_id
72, 131, 138, 239, 332

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
111 333 117 131 cTTP compound_heterozygous USA female 21 21 <5 9 yes pregnancy on demand PI
173 333 241 239 cTTP compound_heterozygous UK female unknown unknown unknown unknown yes pregnancy unknown
353 333 241 138 cTTP compound_heterozygous UK female 20 unknown <5 unknown yes pregnancy unknown