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UniProtKB/Swiss-Prot P13569: Variant p.Leu1065Pro

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Variant information

Variant position:  1065
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 Leucine (L) to Proline (P) at position 1065 (L1065P, p.Leu1065Pro).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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.
Any additional useful information about the variant.

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



Sequence information

Variant position:  1065
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:   SEGRSPIFTHLVTSLKGLWT  L RAFGRQPYFETLFHKALNLH
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                         SEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLH

Gorilla                       SEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLH

                              SEGRSPIFTHLLTSLKGLWTLRAFGRQPYFETLFHKALNLH

Rhesus macaque                SEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLH

Chimpanzee                    SEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLH

Mouse                         SEGRSPIFTHLVTSLKGLWTLRAFRRQTYFETLFHKALNLH

Rat                           SEGRSPIFTHLVTSLKGLWTLRAFRRQTYFETLFHKALNLH

Pig                           SEGRSPIFTHLITSLKGLWTLRAFGRQPYFETLFHKALNLH

Bovine                        SEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLH

Rabbit                        SEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLH

Sheep                         SEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLH

Horse                         SEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLH

Xenopus laevis                SKARSPIFAHLITSLKGLWTLRAFGRQPYFETLFHKALNLH

Zebrafish                     TEARSPIFSHLIMSLKGLWTIRAFERQAYFEALFHKTLNTH

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 1035 – 1095 Cytoplasmic
Domain 859 – 1155 ABC transmembrane type-1 2
Alternative sequence 606 – 1480 Missing. In isoform 3.
Helix 1062 – 1068


Literature citations

Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Ghanem N.; Costes B.; Girodon E.; Martin J.; Fanen P.; Goossens M.;
Genomics 21:434-436(1994)
Cited for: VARIANTS CYS-31 AND ILE-1220; VARIANTS CF 890-GLN--LEU-1480 DEL; LEU-912; TYR-949; PRO-1065; PRO-1071 AND 1204-TRP--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.