UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1235

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Serine (S) to Arginine (R) at position 1235 (S1235R, p.Ser1235Arg).

Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:

Change from small size and polar (S) to large size and basic (R)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-1

The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page

Variant description:

In CF.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs34911792 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1235

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

1480

The length of the canonical sequence.

Location on the sequence:

LTAKYTEGGNAILENISFSI S PGQRVGLLGRTGSGKSTLLS

The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         LTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLS

Gorilla                       LTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLS

                              LTAKYIDGGNAILENISFSISPGQRVGLLGRTGSGKSTLLS

Rhesus macaque                LTAKYTEGGNPILENISFSISPGQRVGLLGRTGSGKSTLLS

Chimpanzee                    LTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLS

Mouse                         LTVKYMDDGNAVLENISFSISPGQRVGLLGRTGSGKSTLLS

Rat                           LTVKYVDDGNAILENISFSISPGQRVGLLGRTGSGKSTLLS

Pig                           LTAKYVDGGNAVLENISFSISPGQRVGLLGRTGSGKSTLLL

Bovine                        LTAKYTDGGNAILENISFSISPGQRVGLLGRTGSGKSTLLL

Rabbit                        LTAKYIDSGNAILENISFSISPGQRVGLLGRTGSGKSTLLS

Sheep                         LTAKYIDGGNAILENISFSISPGQRVGLLGRTGSGKSTLLL

Horse                         LTAKYTDGGNAILENISFSISPGQRVGLLGRTGSGKSTLLS

Xenopus laevis                LSANYIDGGNTVLENISFSLSPGQRVGLLGRTGSGKSTLLS

Zebrafish                     LTVKYTEAGHAVLKNLSFSAEGRQRVGILGRTGSGKSSLFN

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	1 – 1480	Cystic fibrosis transmembrane conductance regulator
Topological domain	1152 – 1480	Cytoplasmic
Domain	1210 – 1443	ABC transporter 2
Binding site	1219 – 1219	ATP 2
Alternative sequence	606 – 1480	Missing. In isoform 3.
Mutagenesis	1250 – 1250	K -> M. No effect on maturation of glycans, suggesting that trafficking to the plasma membrane is not altered.

Literature citations

No reference for the current variant in UniProtKB/Swiss-Prot.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Ser1235Arg