UniProtKB/Swiss-Prot P13569: Variant p.Ser605Phe

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position:

605 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Phenylalanine (F) at position 605 (S605F, p.Ser605Phe). 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 aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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
Other resources:

Links to websites of interest for the variant.

Variant rs766874 [ dbSNP | Ensembl ]

Sequence information Variant position:

605 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:

EIFESCVCKLMANKTRILVT S KMEHLKKADKILILHEGSSY 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                         EIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSY

Gorilla                       EIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSY

                              EIFESCVCKLMANKTRILVTSKMEHLKKADKVLILHEGSCY

Rhesus macaque                EIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSY

Chimpanzee                    EIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSY

Mouse                         QVFESCVCKLMANKTRILVTSKMEHLRKADKILILHQGSSY

Rat                           QIFESCVCKLMASKTRILVTSKMEQLKKADKILILHEGSSY

Pig                           EIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSY

Bovine                        EIFESCICKLMANKTRILVTSKMEHLKKADKILILHEGSIY

Rabbit                        EIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSY

Sheep                         EIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSVY

Horse                         EIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSY

Xenopus laevis                EIFESCVCKLMANKTRILVTSKVEQLKKADKVLILHEGSCY

Zebrafish                     EIFDKCLCKLMASKTRILVTNKIEHLKRADKILLLHNGESF

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	359 – 858	Cytoplasmic
Domain	423 – 646	ABC transporter 1
Alternative sequence	589 – 605	SCVCKLMANKTRILVTS -> RRRCSCLLDRNKKTIF. In isoform 3.

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

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.