UniProtKB/SwissProt variant VAR

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Feedback?

Variant information Variant position:

1101
Type of variant:

LP/P [Disclaimer]
Residue change:

From Methionine (M) to Arginine (R) at position 1101 (M1101R, p.Met1101Arg).
Physico-chemical properties:

Change from medium size and hydrophobic (M) to large size and basic (R)
BLOSUM score:

-1
Variant description:

In CF.
Other resources:

Variant rs36210737 [ dbSNP | Ensembl ]

Sequence information Variant position:

1101
Protein sequence length:

1480
Location on the sequence:

ALNLHTANWFLYLSTLRWFQ M RIEMIFVIFFIAVTFISILT
Residue conservation:

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:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Met1101Arg