Analysis of p.Arg1453Trp variant, CFTR gene, CF Transmembrane conductance Regulator protein (1480 residues)
Data provided and calculated by CYSMA must be considered as predictions.
They are meant for educational purposes only and are provided with NO WARRANTY with respect to their biological reliability.
The mutant residue cannot be found in the alignment.
Following species have a gap at the position:
Danio rerio
Caenorhabditis elegans
The wild-type residue R1453 is highly conserved among the CFTR orthologs: 94% (47 / 50 CFTR orthologs)The variant R1453W has never been found among the CFTR orthologs
*AAPI: Alignment Average Percentage Identity
**AAPIR: Alignment Average Percentage Identity of the Region (20 residues surrounding position 1453). AAPIR appears in green if it is more than 10% compared to AAPI, in red if less than 10%. Click here for more details on the alignment.
Divergencies show the amino acids which have been selected in the evolution.
If you find your variant among them with a high occurrence, there are good chances that your variant will most likely either have a small impact or no impact at all on the CFTR function.
Please note that CYSMA does not consider splicing alterations.
Refer to the Help page for more details.
CYSMA's visualizing modules for Ortholog conservation:
⬇ Download the region alignment (50 residues, Fasta format)
⬇ Download the CFTR phylogenic tree
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1453
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Homo sapiens
L
N
E
R
S
L
F
R
Q
A
I
S
P
S
D
R
V
K
L
F
P
-
-
H
R
N
S
S
K
C
K
S
K
P
Q
I
A
A
L
K
E
E
T
E
E
E
V
Q
D
T
Pan troglodytes
L
N
E
R
S
L
F
R
Q
A
I
S
P
S
D
R
V
K
L
F
P
-
-
H
R
N
S
S
K
C
K
S
K
P
Q
I
A
A
L
K
E
E
T
E
E
E
V
Q
D
T
Pongo pygmaeus
L
N
E
R
S
L
F
Q
Q
A
I
S
P
S
D
R
V
K
L
F
P
-
-
H
R
N
S
S
K
C
K
S
K
P
Q
I
A
A
L
K
E
E
T
E
E
E
V
Q
D
T
Gorilla gorilla
L
N
E
R
S
L
F
R
Q
A
I
S
P
S
D
R
V
K
L
F
P
-
-
H
R
N
S
S
K
C
K
S
K
P
Q
I
A
A
L
K
E
E
T
E
E
E
V
H
D
T
Nomascus leucogenys
L
N
E
R
S
L
F
R
Q
A
I
S
P
S
D
R
V
K
L
F
P
-
-
H
R
N
S
S
K
G
K
S
Q
P
Q
I
A
A
L
K
E
E
T
E
E
E
V
Q
D
T
Macaca mulatta
L
N
E
R
S
L
F
R
Q
A
I
S
P
S
D
R
V
K
L
F
P
-
-
H
R
N
S
S
K
C
K
T
Q
P
Q
I
A
A
L
K
E
E
T
E
E
E
V
Q
D
T
Macaca nemestrina
L
N
E
R
S
L
F
Q
Q
A
I
S
P
S
D
R
V
K
L
F
P
-
-
H
R
N
S
S
K
C
K
T
Q
P
Q
I
A
A
L
K
E
E
T
E
E
E
V
Q
D
T
Macaca fascicularis
L
N
E
R
S
L
F
R
Q
A
I
S
P
S
D
R
V
K
L
F
P
-
-
H
R
N
S
S
K
C
K
T
Q
P
Q
I
A
A
L
K
E
E
T
E
E
E
V
Q
D
T
Papio anubis
L
N
E
R
S
L
F
R
Q
A
I
S
P
S
D
R
V
K
L
F
P
-
-
H
R
N
S
S
K
C
K
S
Q
P
Q
I
A
A
L
K
E
E
T
E
E
E
V
Q
D
T
Callithrix jacchus
L
N
E
K
S
L
F
R
Q
A
I
S
H
S
D
R
V
K
L
F
P
-
-
H
R
N
S
S
K
Y
K
S
R
P
Q
I
A
S
L
K
E
E
T
E
E
E
V
Q
E
T
Chlorocebus aethiops
L
N
E
R
S
L
F
R
Q
A
I
S
P
S
D
R
V
K
L
F
P
-
-
H
R
N
S
S
K
C
K
S
Q
P
Q
I
A
A
L
K
E
E
T
E
E
E
V
Q
D
T
Colobus guereza
L
N
E
R
S
L
F
R
Q
A
I
S
P
S
D
R
V
K
L
F
P
-
-
H
R
N
S
S
K
C
K
S
Q
P
Q
I
A
A
L
K
E
E
T
E
E
E
V
Q
D
T
Ateles geoffroyi
L
N
E
K
S
L
F
Q
Q
A
I
S
H
S
D
R
V
K
L
F
P
-
-
H
R
N
S
S
K
Y
K
S
P
P
Q
I
A
S
L
K
E
E
T
E
E
E
V
Q
E
T
Plecturocebus moloch
L
N
E
K
S
L
F
Q
Q
A
I
S
H
S
D
R
V
K
L
F
P
-
-
H
R
N
S
S
K
Y
K
S
R
P
Q
I
A
S
L
K
E
E
T
E
E
E
V
Q
E
T
Saimiri boliviensis
L
N
E
K
S
L
F
R
Q
A
I
S
H
S
D
R
M
K
L
F
P
-
-
H
R
N
S
S
K
Y
K
S
R
P
Q
I
A
S
L
K
E
E
T
E
E
E
V
Q
E
T
Aotus nancymaae
L
N
E
K
S
L
F
R
Q
A
I
S
H
S
D
R
V
K
L
F
P
-
-
H
R
N
S
S
K
Y
K
S
Q
P
Q
I
A
S
L
K
E
E
T
E
E
E
V
Q
E
T
Otolemur garnettii
L
S
E
K
S
L
F
R
Q
A
I
S
P
S
D
R
M
K
L
F
P
-
-
R
R
N
S
S
K
H
K
S
R
S
P
I
T
A
L
K
E
E
T
E
E
E
V
Q
E
T
Microcebus murinus
L
S
E
K
S
L
F
R
Q
A
I
S
P
S
D
R
M
K
L
F
P
-
-
R
R
N
S
S
K
H
K
S
R
P
P
I
T
A
L
K
E
E
T
E
E
E
V
Q
D
T
Vicugna pacos
L
S
E
K
S
L
F
R
Q
A
I
S
P
S
D
R
L
R
L
L
P
-
-
H
R
N
S
S
R
Q
R
S
R
S
Q
I
A
A
L
K
E
E
T
E
E
E
V
Q
E
T
Sus scrofa
L
S
E
K
S
L
F
R
Q
A
I
S
P
L
D
R
L
K
L
L
P
-
-
H
R
N
S
S
K
Q
R
S
R
S
K
I
A
A
L
K
E
E
T
E
E
E
V
Q
E
T
Bos taurus
L
S
E
K
S
L
F
R
Q
A
I
S
P
A
D
R
L
K
L
L
P
-
-
H
R
N
S
S
R
Q
R
S
R
S
N
I
A
A
L
K
E
E
T
E
E
E
V
Q
E
T
Muntiacus reevesi
L
S
E
K
S
L
F
R
Q
A
I
S
P
A
D
R
L
K
L
L
P
-
-
Q
R
N
S
S
R
Q
K
S
R
S
N
I
A
A
L
K
E
E
T
E
E
E
V
Q
E
T
Muntiacus muntjak
L
S
E
K
S
L
F
R
Q
A
I
S
P
A
D
R
L
K
L
L
P
-
-
Q
R
N
S
S
R
Q
K
S
R
S
N
I
A
A
L
K
E
E
T
E
E
E
V
Q
E
T
Ovis aries
L
S
E
K
S
L
F
R
Q
A
I
S
P
A
D
R
L
K
L
L
P
-
-
H
R
N
S
S
R
Q
R
S
R
A
N
I
A
A
L
K
E
E
T
E
E
E
V
Q
E
T
Equus caballus
L
S
E
K
S
L
F
Q
Q
A
I
S
S
S
D
P
L
K
L
F
P
-
-
H
R
N
S
S
K
H
K
S
R
S
K
I
A
A
L
Q
E
E
T
E
E
E
V
Q
E
T
Canis familiaris
L
S
E
R
S
A
F
R
Q
A
I
G
P
P
E
R
P
G
L
L
P
-
-
H
R
L
S
S
R
Q
R
S
P
S
R
I
A
A
L
K
E
E
T
E
D
E
V
Q
D
T
Loxodonta africana
L
N
E
K
S
L
F
R
Q
A
I
S
P
L
D
R
M
K
L
L
P
-
-
H
R
N
S
S
R
H
R
S
R
S
Q
I
A
A
L
K
E
E
T
E
E
E
V
Q
E
T
Mustela furo
L
S
E
K
S
L
F
R
Q
A
I
S
P
S
D
R
L
R
F
F
P
-
-
H
R
N
S
S
K
H
K
S
R
S
Q
I
A
A
L
K
E
E
T
E
E
E
V
Q
E
T
Oryctolagus cuniculus
L
S
E
K
S
L
F
R
Q
A
I
S
S
S
D
R
A
K
L
F
P
-
-
H
R
N
S
S
K
H
K
S
R
P
Q
I
T
A
L
K
E
E
A
E
E
E
V
Q
G
T
Atelerix albiventris
L
S
E
K
S
L
F
R
Q
A
I
S
N
S
D
R
L
K
L
F
P
-
-
H
R
N
S
S
K
H
K
S
R
S
K
I
A
A
L
K
E
E
T
E
E
E
V
Q
E
T
Dasypus novemcinctus
L
S
E
K
S
L
F
R
Q
A
I
S
P
S
D
R
V
K
L
F
P
-
-
H
Q
N
S
G
K
H
K
S
R
S
K
I
T
A
L
K
E
E
T
E
E
E
V
Q
D
T
Rhinolophus ferrumequinum
L
S
E
K
S
L
F
Q
Q
A
I
S
P
S
D
R
L
K
L
F
P
-
-
Q
R
S
S
S
K
H
R
S
R
A
Q
I
T
A
L
K
E
E
A
E
E
E
V
Q
D
T
Cavia porcellus
L
S
E
K
S
L
F
R
Q
A
I
S
S
S
D
R
L
K
L
F
P
-
-
H
R
N
S
S
K
H
K
S
R
S
Q
I
T
A
L
K
E
E
T
E
E
E
V
Q
E
T
Monodelphis domestica
V
N
E
K
S
L
Y
R
Q
A
I
S
H
S
D
R
M
K
L
F
P
-
-
H
R
N
S
S
R
H
K
S
R
A
K
I
T
A
L
K
E
E
T
E
E
E
V
Q
E
T
Ornithorhynchus anatinus
L
N
E
K
S
V
F
K
Q
A
I
S
H
S
D
K
M
K
L
F
P
I
H
R
R
N
S
S
K
R
L
S
R
P
K
I
T
A
L
Q
E
E
T
E
E
E
V
Q
D
T
Didelphis virginiana
V
N
E
K
S
L
Y
R
Q
A
I
S
H
S
D
R
M
K
L
F
P
-
-
H
R
N
S
S
R
H
K
S
L
A
K
I
T
A
L
K
E
E
T
E
E
E
V
Q
E
T
Trichosurus vulpecula
V
T
E
K
R
L
Y
G
Q
A
I
S
H
S
D
R
M
K
L
F
P
-
-
H
R
N
S
S
R
H
K
S
R
A
K
I
T
A
L
K
E
E
T
E
E
E
V
Q
E
T
Carollia perspicillata
L
S
E
K
I
L
F
Q
Q
A
M
S
P
L
D
R
L
K
L
L
P
-
-
H
R
N
S
S
R
H
K
S
Q
S
K
I
S
A
L
K
E
E
T
E
E
E
V
Q
E
T
Mus musculus
L
S
E
K
S
I
F
Q
Q
A
I
S
S
S
E
K
M
R
F
F
Q
-
-
G
R
H
S
S
K
H
K
P
R
T
Q
I
T
A
L
K
E
E
T
E
E
E
V
Q
E
T
Rattus norvegicus
L
S
E
K
S
V
F
Q
R
A
L
S
S
S
E
K
M
K
L
F
H
-
-
G
R
H
S
S
K
Q
K
P
R
T
Q
I
T
A
V
K
E
E
T
E
E
E
V
Q
E
T
Gallus gallus
L
S
E
K
S
S
L
R
Q
A
I
S
H
A
D
R
L
K
L
L
P
-
-
R
R
N
S
S
K
R
K
P
R
P
Q
I
C
A
L
Q
E
E
T
E
E
E
V
Q
E
T
Taeniopygia guttata
L
N
E
K
S
S
F
R
Q
A
I
S
H
A
E
R
L
K
L
L
P
-
-
H
R
N
S
S
K
R
K
P
R
P
Q
I
T
A
L
Q
E
E
T
E
E
E
V
Q
E
T
Xenopus tropicalis
M
N
E
K
S
F
F
K
Q
A
I
S
Q
S
D
R
L
K
L
F
P
-
-
R
R
N
S
S
K
R
K
S
R
P
K
I
S
A
L
Q
E
E
T
E
E
E
V
Q
E
T
Xenopus laevis
V
N
E
K
S
F
F
K
Q
A
I
S
H
S
D
R
L
K
L
F
P
L
H
R
R
N
S
S
K
R
K
S
R
P
Q
I
S
A
L
Q
E
E
T
E
E
E
V
Q
D
T
Squalus acanthias
L
T
E
A
S
L
F
K
Q
V
F
G
H
L
D
R
A
K
L
F
T
A
H
R
R
N
S
S
K
R
K
T
R
P
K
I
S
A
L
Q
E
E
A
E
E
D
L
Q
E
T
Danio rerio
L
N
E
T
S
H
L
K
Q
A
I
S
P
A
E
R
L
K
L
F
P
-
-
-
-
N
S
S
M
R
T
P
Q
S
K
L
S
S
V
T
E
E
A
E
D
N
I
Q
D
T
Oryzias latipes
M
S
E
V
A
H
L
R
Q
A
I
S
P
A
D
Q
H
R
-
F
P
-
-
H
R
L
N
S
T
K
R
P
L
P
Q
T
T
K
I
S
E
E
A
E
D
E
V
Q
D
T
Takifugu rubripes
L
N
E
M
S
H
L
K
Q
A
V
S
A
A
D
R
L
R
L
F
P
-
-
H
R
L
N
S
I
K
R
A
P
P
Q
A
A
K
I
S
E
E
A
E
D
E
V
H
D
T
Tetraodon nigroviridis
L
N
E
M
S
H
L
K
Q
A
V
S
A
A
D
R
L
R
L
F
P
-
-
H
R
L
N
S
V
K
R
A
P
P
Q
A
A
K
I
S
E
E
A
E
D
E
V
H
D
T
Caenorhabditis elegans
L
D
D
Q
S
S
L
F
S
R
M
A
A
Q
S
G
A
E
N
F
D
-
-
-
-
-
-
-
-
S
L
R
A
A
A
L
A
H
A
I
D
D
Q
S
S
Y
T
D
N
S
Species color legend (basic classification):
Great apes | Other monkeys | Prosimians | Other mammals | Lizards | Birds | Amphibians | Fishes | Insects | Nematods | Tunicates | Echinoderms
Ortholog sequences have been selected from the Ensembl(1) and
NCBI websites. Alignment has been performed with
ClustalW(2), version 1.83 or 2.0.7.
Trees have been built using Phylogeny.fr(3), based on the alignments.
Software used is PhyML 3.0 aLRT with default parameters. Pictures of trees have been made using Phylip at Mobyle.
AAPI and AAPIR have been calculated thanks to Bioperl.
Domain conservation:
The domain C-ter of CF Transmembrane conductance Regulator has been shown to interact with:
