Variant detail

mut_id 282 · c.587C>T · p.Thr196Ile

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Evidence at a glance

Linked patients

Patient-variant records

Linked references

Countries reported

cTTP (2)

Common phenotype

compound_heterozygous (1)

Common zygosity

Summary

Point missense_variant Pathogenic Residue 196 AlphaMissense key T196I

HGVS

c.587C>T

Protein change

p.Thr196Ile

rsID

rs121908470

ClinVar ID

5801

GRCh38 coordinate

133426246

Location

exon 6

gnomAD AF

0.00002666

Domain

Metalloprotease

Gene

ADAMTS13

External links

dbSNP ClinVar 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

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

Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome

Authors: Matsumoto M, Kokame K, Soejima K, Miura M, Hayashi S, Fujii Y, Iwai A, Ito E, Tsuji Y, Takeda-Shitaka M, Iwadate M, Umeyama H, Yagi H, Ishizashi H, Banno F, Nakagaki T, Miyata T, Fujimura Y.
Source: Blood (2004)
Citation: Blood. 2004 Feb 15;103(4):1305-10. doi: 10.1182/blood-2003-06-1796. Epub 2003 Oct 16.
PubMed: 14563640 · DOI: 10.1182/blood-2003-06-1796

Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity

Authors: Kokame K, Matsumoto M, Soejima K, Yagi H, Ishizashi H, Funato M, Tamai H, Konno M, Kamide K, Kawano Y, Miyata T, Fujimura Y.
Source: Proc Natl Acad Sci U S A (2002)
Citation: Proc Natl Acad Sci U S A. 2002 Sep 3;99(18):11902-7. doi: 10.1073/pnas.172277399. Epub 2002 Aug 14.
PubMed: 12181489 · DOI: 10.1073/pnas.172277399

Amino-acid property change

Residue substitution

T → I at 196

AlphaMissense score

0.9189

Likely pathogenic

CSV class: LPath

Hydrophobicity

hydrophilic → hydrophobic

Charge

neutral → neutral (unchanged)

Polarity

polar → nonpolar

Size

medium → large

Residue type

Unknown → aliphatic

Typical protein position

surface → buried

Hydropathy index

-0.7 → 4.5

Molecular weight

119.1 → 131.2

Original residue details

T · threonine
code: Thr
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:

Variant residue details

I · isoleucine
code: Ile
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aliphatic

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 196 highlighted in red.

AlphaFold Q76LX8 ADAMTS13 structure

Domain: Metalloprotease

Domain colours match the homepage domain viewer.

Patient summary

Countries represented

Australia (1); UK (1)

Phenotype

cTTP (2)

Zygosity

compound_heterozygous (1); homozygous (1)

Sex

female (2)

Pregnancy-related

no (1)

Triggers

none (2)

Treatment

on-demand PI (2)

ADAMTS13 activity

n=2; median=7.5; range=5–10

Age of onset

n=1; median=3; range=3–3

Age of diagnosis

n=1; median=1; range=1–1

Platelet count

Not available

Variant fields

mut_syn_HGVS

c.587C>T

cdna_numb_HGVS

587

cdna_numb_legacy

587

nt_change

C>T

n_bp

nuc_numb

587

g_numb

g16

aa_numb_HGVS

196

aa_numb_legacy

196

aa_first

Thr

aa_last

Ile

aa_syn

p.Thr196Ile

codon_first

ACC

codon_last

ATC

coordinate_GRCh38

133426246

gnomAD_AC

gnomAD_AN

1612994

gnomAD_AF

0.00002666

clinvar_id

5801

clinvar_classification

Pathogenic

g_id

g16

g_name

ADAMTS13

comments

Pathogenic

refState

complete

ref_id

72, 138, 180, 188, 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
122	282	273	180	cTTP	compound_heterozygous	Australia	female	unknown	1	<10	unknown		none	on-demand PI
360	282	.	138	cTTP	homozygous	UK	female	3	unknown	<5	unknown	no	none	on-demand PI

ADAMTS13 Variant Database