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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Phe1052Val

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 1052
Type of variant: help LP/P [Disclaimer]
Residue change: help From Phenylalanine (F) to Valine (V) at position 1052 (F1052V, p.Phe1052Val).
Physico-chemical properties: help Change from large size and aromatic (F) to medium size and hydrophobic (V)
BLOSUM score: help -1
Variant description: help In CF.
Other resources: help


Sequence information Variant position: help 1052
Protein sequence length: help 1480
Location on the sequence: help YFLQTSQQLKQLESEGRSPI F THLVTSLKGLWTLRAFGRQP
Residue conservation: help 
Human                         YFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQP

Gorilla                       YFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQP

                              YFLHTSQQLKQLESEGRSPIFTHLLTSLKGLWTLRAFGRQP

Rhesus macaque                YFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQP

Chimpanzee                    YFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQP

Mouse                         YFLHTAQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFRRQT

Rat                           YFLHTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFRRQT

Pig                           YFLHTSQQLKQLESEGRSPIFTHLITSLKGLWTLRAFGRQP

Bovine                        YFLHTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQP

Rabbit                        YFLHTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQP

Sheep                         YFLHTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQP

Horse                         YFLHTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQP

Xenopus laevis                YFLHTSQQLKQLESKARSPIFAHLITSLKGLWTLRAFGRQP

Zebrafish                     YFLRTGQQLKQLETEARSPIFSHLIMSLKGLWTIRAFERQA
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 1049 – 1060



Literature citations
Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.
Mercier B.; Lissens W.; Novelli G.; Kalaydjieva L.; De Arce M.; Kapranov N.; Klain N.C.; Lenoir G.; Chauveau P.; Lenaerts C.; Rault G.; Cashman S.; Sangiuolo F.; Audrezet M.-P.; Dallapiccola B.; Guillermit H.; Bonduelle M.; Liebaers I.; Quere I.; Verlingue C.; Ferec C.;
Genomics 16:296-297(1993)
Cited for: VARIANTS CF VAL-1052; ARG-1061; LEU-1066; GLN-1070; ARG-1085 AND ARG-1101;
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.