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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Asn1303Lys

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 1303 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 Asparagine (N) to Lysine (K) at position 1303 (N1303K, p.Asn1303Lys). 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 medium size and polar (N) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In CF; impaired maturation of glycan chains; has low in vitro channel activity at low temperature. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1303 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 RKAFGVIPQKVFIFSGTFRK N LDPYEQWSDQEIWKVADEVG 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                         RKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVG

Gorilla                       RKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVG

                              RRAFGVIPQKVFIFSGTFRKNLDPYGQWNDQEIWKVADEVG

Rhesus macaque                RKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVG

Chimpanzee                    RKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVG

Mouse                         RKAFGVITQKVFIFSGTFRQNLDPNGKWKDEEIWKVADEVG

Rat                           RKAFGVITQKVFIFSGTFRQNLDPNGKWRDEEIWKVADQVG

Pig                           RKAFGVIPQKVFIFSGTFRKNLDPYGQWNDQEIWKVAEEVG

Bovine                        RKAFGVIPQKVFIFSGTFRKNLDPYGQWSDQEIWKVADEVG

Rabbit                        RKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVG

Sheep                         RKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVG

Horse                         RKAFGVIPQKVFIFSGTFRKNLDPYGQWNDQEIWKVADEVG

Xenopus laevis                RKAFGVIPQKVFIFSGSIRKNLDPYGKWSDEELLKVTEEVG

Zebrafish                     RKAFGVVPQKVFIFTGPLRMNLDPYGCHSDEELWRVAEEVG

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
Topological domain 1152 – 1480 Cytoplasmic
Domain 1210 – 1443 ABC transporter 2
Alternative sequence 606 – 1480 Missing. In isoform 3.
Helix 1300 – 1304



Literature citations
Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2.
Gregory R.J.; Rich D.P.; Cheng S.H.; Souza D.W.; Paul S.; Manavalan P.; Anderson M.P.; Welsh M.J.; Smith A.E.;
Mol. Cell. Biol. 11:3886-3893(1991)
Cited for: CHARACTERIZATION OF CF VARIANTS ILE-507 DEL; PHE-508 DEL; ILE-549; ARG-549; ASP-551; THR-559; ASN-572; LYS-1303 AND ASP-1349; FUNCTION; SUBCELLULAR LOCATION; MUTAGENESIS OF PHE-508; Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.
Fanen P.; Ghanem N.; Vidaud M.; Besmond C.; Martin J.; Costes B.; Plassa F.; Goossens M.;
Genomics 13:770-776(1992)
Cited for: VARIANTS VAL-44; MET-470; VAL-506; CYS-508; ALA-576; CYS-668; PHE-997; THR-1027 AND LEU-1162; VARIANTS CF GLY-44; ARG-178; ARG-225; TRP-334; PHE-508 DEL; 542-GLY--LEU-1480 DEL; ASP-551; ILE-562; ARG-628; 710-LYS--LEU-1480 DEL; 846-TRP--LEU-1480 DEL; CYS-913; 1063-TRP--LEU-1480 DEL; CYS-1066; 1092-TYR--LEU-1480 DEL; 1162-ARG--LEU-1480 DEL; GLU-1200; 1282-TRP--LEU-1480 DEL AND LYS-1303; Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene.
Cuppens H.; Marynen P.; De Boeck C.; Cassiman J.J.;
Genomics 18:693-697(1993)
Cited for: VARIANTS CF HIS-117; LYS-336; GLU-455; VAL-458; ARG-628; ARG-1235; ASN-1251 AND LYS-1303; Cystic fibrosis mutation frequencies in upstate New York.
Shrimpton A.E.; Borowitz D.; Swender P.;
Hum. Mutat. 10:436-442(1997)
Cited for: VARIANTS CF GLU-85; HIS-117; TYR-287; GLU-455; ASP-551; PRO-1070 AND LYS-1303; Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).
Onay T.; Topaloglu O.; Zielenski J.; Gokgoz N.; Kayserili H.; Camcioglu Y.; Cokugras H.; Akcakaya N.; Apak M.; Tsui L.-C.; Kirdar B.;
Hum. Genet. 102:224-230(1998)
Cited for: VARIANTS CF GLN-75; HIS-110; SER-571; ILE-952; LEU-1013; ILE-1028 AND LYS-1303; The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis.
Rohlfs E.M.; Zhou Z.; Sugarman E.A.; Heim R.A.; Pace R.G.; Knowles M.R.; Silverman L.M.; Allitto B.A.;
Genet. Med. 4:319-323(2002)
Cited for: VARIANTS CF THR-148; PHE-508 DEL; 890-GLN--LEU-1480 DEL; 1023-ILE-VAL-1024 DEL AND LYS-1303; Regulatory interactions of N1303K-CFTR and ENaC in Xenopus oocytes: evidence that chloride transport is not necessary for inhibition of ENaC.
Suaud L.; Yan W.; Carattino M.D.; Robay A.; Kleyman T.R.; Rubenstein R.C.;
Am. J. Physiol. 292:C1553-C1561(2007)
Cited for: CHARACTERIZATION OF VARIANT CF LYS-1303; FUNCTION; SUBCELLULAR LOCATION;
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.