UniProtKB/Swiss-Prot P13569: Variant p.Tyr301Cys

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Chromosomal location: 7q31.2
Variant information

Variant position:  301
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Tyrosine (Y) to Cysteine (C) at position 301 (Y301C, p.Tyr301Cys).
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 large size and aromatic (Y) to medium size and polar (C)
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

Involvement in disease:  Cystic fibrosis (CF) [MIM:219700]: A common generalized disorder of the exocrine glands which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In CF.
Any additional useful information about the variant.

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



Sequence information

Variant position:  301
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:   MEKMIENLRQTELKLTRKAA  Y VRYFNSSAFFFSGFFVVFLS
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                         MEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLS

Gorilla                       MEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLS

Rhesus macaque                MEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLS

Chimpanzee                    MEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLS

Mouse                         MEKMIENLREVELKMTRKAAYMRFFTSSAFFFSGFFVVFLS

Rat                           MEKIIESLREEELKMTRRSAYMRFFTSSAFFFSGFFVVFLS

Pig                           MEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGLFVVFLS

Bovine                        MEKIIENLRQTELKLTRKAAYVRYLNSSAFFFSGFFVVFLS

Rabbit                        MEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLS

Sheep                         MEKIIENLRQTELKLTRKAAYVRYLNSSAFFFSGFFVVFLS

Dog                           MEKIIENIRQTELKLTRKAAHVRYFNSSAFFFSGFFVVSLS

Horse                         MEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLS

Xenopus laevis                MEKIIETIRETELKLTRKAAYVRYFNSSAFFFSGFFVVFLS

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 242 – 307 Cytoplasmic
Domain 81 – 365 ABC transmembrane type-1 1
Modified residue 291 – 291 Phosphothreonine


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.