Variant detail

mut_id 326 · c.1921G>A · p.Glu641Lys

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Evidence at a glance

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

Summary

Point missense_variant Residue 641 AlphaMissense key E641K
HGVS
c.1921G>A
Protein change
p.Glu641Lys
rsID
rs782547718
Location
exon 16
gnomAD AF
0.0000124
Domain
Spacer
Gene
ADAMTS13

External links

dbSNP

References

Congenital Thrombotic Thrombocytopenic Purpura With a Novel ADAMTS13 Gene Mutation
Authors: Rashid A, Mushtaq N, Mansoori H.
Source: Cureus (2020)
Citation: Cureus. 2020 Dec 13;12(12):e12053. doi: 10.7759/cureus.12053.
PubMed: 33447482 · DOI: 10.7759/cureus.12053
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
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
Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura
Authors: Lotta LA, Wu HM, Mackie IJ, Noris M, Veyradier A, Scully MA, Remuzzi G, Coppo P, Liesner R, Donadelli R, Loirat C, Gibbs RA, Horne A, Yang S, Garagiola I, Musallam KM, Peyvandi F
Source: Blood (2012)
Citation: Blood. 2012 Jul 12;120(2):440-8. doi: 10.1182/blood-2012-01-403113. Epub 2012 Apr 23
PubMed: 22529288 · DOI: 10.1182/blood-2012-01-403113

Amino-acid property change

Residue substitution
E → K at 641
AlphaMissense score
0.8875
Likely pathogenic
CSV class: LPath
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 641 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Spacer
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Taiwan (1); UK (1); India (1)
Phenotype
cTTP (3)
Zygosity
compound_heterozygous (2); homozygous (1)
Sex
female (2); male (1)
Pregnancy-related
no (2); yes (1)
Triggers
infection (1); pregnancy (1); none (1)
Treatment
PI (2); unknown (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=2; median=1; range=1–1
Age of diagnosis
n=2; median=6.5; range=1–12
Platelet count
n=2; median=11.5; range=10–13

Variant fields

mut_syn_HGVS
c.1921G>A
cdna_numb_HGVS
1921
cdna_numb_legacy
1921
nt_change
G>A
n_bp
1
nuc_numb
1921
g_numb
g16
aa_numb_HGVS
641
aa_numb_legacy
641
aa_first
Glu
aa_last
Lys
aa_syn
p.Glu641Lys
codon_first
GAG
codon_last
AAG
gnomAD_AC
20
gnomAD_AN
1612904
gnomAD_AF
0.0000124
g_id
g16
g_name
ADAMTS13
comments
Likely pathogenic
refState
complete
ref_id
46, 72, 239, 313, 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
16 326 178 46 cTTP compound_heterozygous Taiwan female <1 12 <5 13 no infection PI
184 326 324 239 cTTP compound_heterozygous UK female unknown unknown unknown unknown yes pregnancy unknown
284 326 . 313 cTTP homozygous India male <1 <1 unknown 10 no none PI