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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Met1101Arg

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 1101
Type of variant: help LP/P [Disclaimer]
Residue change: help From Methionine (M) to Arginine (R) at position 1101 (M1101R, p.Met1101Arg).
Physico-chemical properties: help Change from medium size and hydrophobic (M) to large size and basic (R)
BLOSUM score: help -1
Variant description: help In CF.
Other resources: help


Sequence information Variant position: help 1101
Protein sequence length: help 1480
Location on the sequence: help ALNLHTANWFLYLSTLRWFQ M RIEMIFVIFFIAVTFISILT
Residue conservation: help
Human                         ALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILT

Gorilla                       ALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILT

                              ALNLHTANWFLYLSTLRWFQMRMEIIFVIFFIAVTFISILT

Rhesus macaque                ALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILT

Chimpanzee                    ALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILT

Mouse                         ALNLHTANWFMYLATLRWFQMRIDMIFVLFFIVVTFISILT

Rat                           ALNLHTANWFMYLATLRWFQMRIDMIFVLFFIVVTFISILT

Pig                           ALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILT

Bovine                        ALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILT

Rabbit                        ALNLHTANWFLYLSTLRWFQMRIEMIFVLFFIAVAFISILT

Sheep                         ALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILT

Horse                         ALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILT

Xenopus laevis                ALNLHTANWFLYLSTLRWFQMTIEMIFVIFFIAVSFISIAT

Zebrafish                     TLNTHTATWFLYLSTLRWFLFRADILFVFFFTLAAWIAVGT

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1480 Cystic fibrosis transmembrane conductance regulator
Transmembrane 1096 – 1116 Helical; Name=11
Domain 859 – 1155 ABC transmembrane type-1 2
Alternative sequence 606 – 1480 Missing. In isoform 3.
Helix 1071 – 1121



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.