Variant detail

mut_id 249 · c.305G>A · p.Arg102His

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Evidence at a glance

3
Linked patients
3
Patient-variant records
4
Linked references
1
Countries reported
cTTP (3)
Common phenotype
homozygous (3)
Common zygosity

Summary

Point missense_variant Likely pathogenic Residue 102 AlphaMissense key R102H
HGVS
c.305G>A
Protein change
p.Arg102His
rsID
rs782716712
ClinVar ID
2683660
GRCh38 coordinate
133424453
Location
exon 3
gnomAD AF
0.00009977
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review
Authors: Beauvais D, Venditti L, Chassin O, Joly B, Ameri A, Boisseau P, Lambotte O, Coppo P, Veyradier A, Denier C.
Source: J Stroke Cerebrovasc Dis (2019)
Citation: J Stroke Cerebrovasc Dis. 2019 Jun;28(6):1537-1539. doi: 10.1016/j.jstrokecerebrovasdis.2019.03.011. Epub 2019 Mar 28.
PubMed: 30930238 · DOI: 10.1016/j.jstrokecerebrovasdis.2019.03.011
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
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
R → H at 102
AlphaMissense score
0.1154
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
postive → postive (unchanged)
Polarity
polar → polar (unchanged)
Size
large → large (unchanged)
Residue type
basic → aromatic/basic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-4.5 → -3.2
Molecular weight
174.2 → 155.2
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
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 102 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
UK (3)
Phenotype
cTTP (3)
Zygosity
homozygous (3)
Sex
female (3)
Pregnancy-related
yes (3)
Triggers
pregnancy (3)
Treatment
unknown (3)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=18; range=18–18
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.305G>A
cdna_numb_HGVS
305
cdna_numb_legacy
305
nt_change
G>A
n_bp
1
nuc_numb
305
g_numb
g16
aa_numb_HGVS
102
aa_numb_legacy
102
aa_first
Arg
aa_last
His
aa_syn
p.Arg102His
codon_first
CGC
codon_last
CAC
coordinate_GRCh38
133424453
gnomAD_AC
161
gnomAD_AN
1613698
gnomAD_AF
0.00009977
clinvar_id
2683660
clinvar_classification
Likely pathogenic
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 72, 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
170 249 . 239 cTTP homozygous UK female unknown unknown unknown unknown yes pregnancy unknown
189 249 . 239 cTTP homozygous UK female unknown unknown unknown unknown yes pregnancy unknown
351 249 . 138 cTTP homozygous UK female 18 unknown <5 unknown yes pregnancy unknown