Variabilité de ACE2
Séquence de référence de ACE2. Pour Anagène.
- Variabilité décrite dans Uniprot
UNIPROT - ACE2 - Mutagenesis
Mutagenesisi |
24 – 26 |
QAK → KAE: Slightly inhibits interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
31 |
K → D: Abolishes interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
37 |
E → A: No effect on interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
38 |
D → A: No effect on interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
41 |
Y → A: Strongly inhibits interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
68 |
K → D: Slightly inhibits interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
82 – 84 |
MYP → NFS: Inhibits interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
110 |
E → P: No effect on interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
135 – 136 |
PD → SM: No effect on interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
160 |
E → R: No effect on interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
169 |
R → Q: About 95% loss of angiotensin I cleavage. |
Mutagenesisi |
192 |
R → D: No effect on interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
219 |
R → D: No effect on interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
239 |
H → Q: No effect on interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
271 |
W → Q: About 95% loss of angiotensin I cleavage. |
Mutagenesisi |
273 |
R → Q: Complete loss of enzyme activity. Does not affect amino acid transport activity of SLC6A19. |
Mutagenesisi |
309 |
K → D: No effect on interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
312 |
E → A: No effect on interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
324 |
T → A: No effect on interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
338 – 340 |
NVQ → DDR: No effect on interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
345 |
H → A: Complete loss of enzyme activity. |
Mutagenesisi |
350 |
D → A: No effect on interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
353 |
K → H, A or D: Abolishes interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
355 |
D → A: Strongly inhibits interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
357 |
R → A: Strongly inhibits interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
359 |
L → K or A: No effect on interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
383 |
M → A: Slightly inhibits interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
389 |
P → A: Slightly inhibits interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
393 |
R → A: Slightly inhibits interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
425 – 427 |
SPD → PSN: Slightly inhibits interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
465 – 467 |
KGE → QDK: No effect on interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
481 |
K → Q: About 80% loss of angiotensin I cleavage. |
Mutagenesisi |
505 |
H → A: Complete loss of enzyme activity. |
Mutagenesisi |
514 |
R → Q: About 50% loss of angiotensin I cleavage but two-fold greater activity with angiotensin II. |
Mutagenesisi |
559 |
R → S: Slightly inhibits interaction with SARS-CoV spike glycoprotein. |
Mutagenesisi |
603 |
F → T: No effect on interaction with SARS-CoV spike glycoprotein. |
- Variants ACE2 rapportés dans l'article de Yanan Cao et ali. Cell Discovery volume 6, Article number: 11 (2020)
a Schematics of 32 coding variants in ACE2 identified in the ChinaMAP and 1KGP (1000 genomes) databases. Yellow stars indicate the nonsense variants; dots indicate the missense variants. The number of samples with hotspot variants was marked. b The distribution of hotspot missense mutations of ACE2 in different populations. The colors indicate different populations.