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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Asp1270Asn

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 1270 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 Aspartate (D) to Asparagine (N) at position 1270 (D1270N, p.Asp1270Asn). 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 acidic (D) 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 CF and CBAVD. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1270 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 KSTLLSAFLRLLNTEGEIQI D GVSWDSITLQQWRKAFGVIP 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                         KSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIP

Gorilla                       KSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIP

                              KSTLLSALLRLVNTEGEIQIDGVSWDSIPLQEWRRAFGVIP

Rhesus macaque                KSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIP

Chimpanzee                    KSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIP

Mouse                         KSTLLSAFLRMLNIKGDIEIDGVSWNSVTLQEWRKAFGVIT

Rat                           KSTLLSAFLRMLNIKGEIQIDGVSWNSMTLQEWRKAFGVIT

Pig                           KSTLLLAFLRLLNTEGEIQVDGVSWDSITLQQWRKAFGVIP

Bovine                        KSTLLLAFLRLLNTKGEIQIDGVSWDSITLQQWRKAFGVIP

Rabbit                        KSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIP

Sheep                         KSTLLLAFLRLLNTKGEIQIDGVSWDSITLQQWRKAFGVIP

Horse                         KSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIP

Xenopus laevis                KSTLLSAFLRLLSTQGDIQIDGVSWQTIPLQKWRKAFGVIP

Zebrafish                     KSSLFNALLKLVYTDGEISIDGVNWNKMPLQKWRKAFGVVP
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.
Mutagenesis 1250 – 1250 K -> A. Decreases glutathione uptake.
Mutagenesis 1250 – 1250 K -> M. No effect on maturation of glycans, suggesting that trafficking to the plasma membrane is not altered.



Literature citations
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
Ratbi I.; Legendre M.; Niel F.; Martin J.; Soufir J.C.; Izard V.; Costes B.; Costa C.; Goossens M.; Girodon E.;
Hum. Reprod. 22:1285-1291(2007)
Cited for: VARIANTS GLN-75 AND MET-470; VARIANTS CBAVD TRP-74; HIS-110; HIS-117; HIS-170; TRP-206; ASP-232; TRP-334; TYR-443; PHE-508 DEL; VAL-556; ILE-562; ALA-576; ASP-622; CYS-668; GLY-938; ILE-952; VAL-959; PHE-977; PHE-997; CYS-1032; ARG-1069; HIS-1152; GLU-1153; ASN-1270; 1282-TRP--LEU-1480 DEL; HIS-1352 AND 1473-GLU--LEU-1480 DEL;
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.