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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Ser307Asn

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 307 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Serine (S) to Asparagine (N) at position 307 (S307N, p.Ser307Asn). 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: help Change from small size and polar (S) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In CBAVD and CF. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 307 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1480 The length of the canonical sequence.
Location on the sequence: help NLRQTELKLTRKAAYVRYFN S SAFFFSGFFVVFLSVLPYAL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         NLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYAL

Gorilla                       NLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYAL

                              NIRQTELKLTRKAAHVRYFNSSAFFFSGFFVVSLSVLPYAL

Rhesus macaque                NLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYAL

Chimpanzee                    NLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYAL

Mouse                         NLREVELKMTRKAAYMRFFTSSAFFFSGFFVVFLSVLPYTV

Rat                           SLREEELKMTRRSAYMRFFTSSAFFFSGFFVVFLSVLPYTV

Pig                           NLRQTELKLTRKAAYVRYFNSSAFFFSGLFVVFLSVLPYAL

Bovine                        NLRQTELKLTRKAAYVRYLNSSAFFFSGFFVVFLSVLPYAL

Rabbit                        NLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYAL

Sheep                         NLRQTELKLTRKAAYVRYLNSSAFFFSGFFVVFLSVLPYAL

Horse                         NLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYAL

Xenopus laevis                TIRETELKLTRKAAYVRYFNSSAFFFSGFFVVFLSIVPHLL

Zebrafish                     NIRQDEVKLTRKIGSLRYFYSSAYFFSAIFVIVAAVVPHAL
Sequence annotation in neighborhood: help 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
Transmembrane 299 – 319 Helical; Name=5
Domain 81 – 365 ABC transmembrane type-1 1
Helix 278 – 312



Literature citations
Analysis of infertile brothers with congenital bilateral absence of vas deferens for mutations in the CFTR gene.
Onay T.; Kayserili H.; Apak M.Y.; Kirdar B.;
Clin. Genet. 55:63-64(1999)
Cited for: VARIANT CBAVD ASN-307; Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.
Banjar H.H.; Tuleimat L.; El Seoudi A.A.A.; Mogarri I.; Alhaider S.; Nizami I.Y.; AlMaghamsi T.; Alkaf S.A.; Moghrabi N.;
Ann. Saudi Med. 40:15-24(2020)
Cited for: VARIANT CF ASN-307; REVIEW; Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.
Bozdogan S.T.; Mujde C.; Boga I.; Sonmezler O.; Hanta A.; Rencuzogullari C.; Ozcan D.; Altintas D.U.; Bisgin A.;
Genes (Basel) 12:0-0(2021)
Cited for: VARIANT CF ASN-307; REVIEW;
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.