Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Leu1065Arg

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Feedback?
Variant information Variant position: help 1065
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Arginine (R) at position 1065 (L1065R, p.Leu1065Arg).
Physico-chemical properties: help Change from medium size and hydrophobic (L) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In CF.
Other resources: help


Sequence information Variant position: help 1065
Protein sequence length: help 1480
Location on the sequence: help SEGRSPIFTHLVTSLKGLWT L RAFGRQPYFETLFHKALNLH
Residue conservation: help 
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: help
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
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
Casals T.; Ramos M.D.; Gimenez J.; Nadal M.; Nunes V.; Estivill X.;
Hum. Mutat. Suppl. 1:S99-S102(1998)
Cited for: VARIANT CF ARG-1065;
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.