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UniProtKB/Swiss-Prot P13569: Variant p.Ile601Phe

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Variant information

Variant position:  601
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 Isoleucine (I) to Phenylalanine (F) at position 601 (I601F, p.Ile601Phe).
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 medium size and hydrophobic (I) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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; impaired maturation of glycan chains.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  601
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:   LTEKEIFESCVCKLMANKTR  I LVTSKMEHLKKADKILILHE
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                         LTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHE

Gorilla                       LTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHE

                              LTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKVLILHE

Rhesus macaque                LTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHE

Chimpanzee                    LTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHE

Mouse                         FTEEQVFESCVCKLMANKTRILVTSKMEHLRKADKILILHQ

Rat                           LTEEQIFESCVCKLMASKTRILVTSKMEQLKKADKILILHE

Pig                           LTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHE

Bovine                        LTEKEIFESCICKLMANKTRILVTSKMEHLKKADKILILHE

Rabbit                        LTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHE

Sheep                         LTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHE

Horse                         LTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHE

Xenopus laevis                FTEKEIFESCVCKLMANKTRILVTSKVEQLKKADKVLILHE

Zebrafish                     ATEKEIFDKCLCKLMASKTRILVTNKIEHLKRADKILLLHN

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.

TypePositionsDescription
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.
Beta strand 598 – 603


Literature citations

Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
Vankeerberghen A.; Wei L.; Jaspers M.; Cassiman J.-J.; Nilius B.; Cuppens H.;
Hum. Mol. Genet. 7:1761-1769(1998)
Cited for: CHARACTERIZATION OF VARIANTS CF PHE-601; SER-610; THR-613; GLY-614; THR-618; SER-619; GLN-620; PRO-620; ARG-628; PRO-633 AND SER-665; CHARACTERIZATION OF VARIANTS CBAVD ASP-622; GLY-792 AND GLY-800; CHARACTERIZATION OF VARIANT THORACIC SARCOIDOSIS LYS-828;

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.