Variant detail

mut_id 380 · p.Cys997Phe

Back Advanced search Full table

Evidence at a glance

Linked patients

Patient-variant records

Linked references

Countries reported

—

Common phenotype

—

Common zygosity

Summary

Point missense_variant Residue 997 AlphaMissense key C997F

Protein change

p.Cys997Phe

Location

exon 23

Domain

TSP type-1 6

Gene

ADAMTS13

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

Amino-acid property change

Residue substitution

C → F at 997

AlphaMissense score

Not available

No local AlphaMissense row found for C997F.

Hydrophobicity

hydrophilic → hydrophobic

Charge

neutral → neutral (unchanged)

Polarity

polar → nonpolar

Size

medium → large

Residue type

Unknown → aromatic

Typical protein position

buried → buried (unchanged)

Hydropathy index

2.5 → 2.8

Molecular weight

121.2 → 165.2

Original residue details

C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:

Variant residue details

F · phenylalanine
code: Phe
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aromatic

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 997 highlighted in red.

AlphaFold Q76LX8 ADAMTS13 structure

Domain: TSP type-1 6

Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

aa_numb_HGVS

997

aa_numb_legacy

997

aa_first

Cys

aa_last

Phe

aa_syn

p.Cys997Phe

g_id

g16

g_name