UniProtKB/Swiss-Prot P13569: Variant p.Arg1162Leu

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position:

1162 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Arginine (R) to Leucine (L) at position 1162 (R1162L, p.Arg1162Leu). 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:

Change from large size and basic (R) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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
Other resources:

Links to websites of interest for the variant.

Variant rs1800120 [ dbSNP | Ensembl ]

Sequence information Variant position:

1162 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:

TLQWAVNSSIDVDSLMRSVS R VFKFIDMPTEGKPTKSTKPY 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                         TLQWAVNSSIDVDSLMRSVSRVFKFIDMPTE-GK-PTKSTKPY

Gorilla                       TLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEDK--PTKSTK

                              TLQWAVNSSIEVDSLMRSVSRVFKFIDMPTEESKPPTKSFK

Rhesus macaque                TLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEEGK-PTRSTK

Chimpanzee                    TLQWAVNSSIDVDSLMRSVSRVFKFIDMPTE-GK-PTKSTK

Mouse                         TLQWAVNSSIDTDSLMRSVSRVFKFIDIQTEESM-YTQIIK

Rat                           TLQWAVNSSIDTDSLMRSVSRVFKFIDIQTEESI-CTKIMK

Pig                           TLQWAVNSSIDVDSLMRSVSRVFKFIDMPAEGDQ-PNRSFK

Bovine                        TLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEDGK-PNNSFR

Rabbit                        TLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEETK-STKSIK

Sheep                         TLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEDGK-PNNSFR

Horse                         TLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEDSK-PTKSVK

Xenopus laevis                TLQWAVNASIDVDSLMRSVSRIFRFIDLPVEELI----NEN

Zebrafish                     TFQWCVATSIAVDGMMRSVDRVFKFIDLPSETPK-PDKG--

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.

Type	Positions	Description
Chain	1 – 1480	Cystic fibrosis transmembrane conductance regulator
Topological domain	1152 – 1480	Cytoplasmic
Alternative sequence	606 – 1480	Missing. In isoform 3.
Mutagenesis	1154 – 1154	D -> G. Decreases channel activity, no visible effect on protein maturation.
Helix	1140 – 1167

Literature citations
Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.
Fanen P.; Ghanem N.; Vidaud M.; Besmond C.; Martin J.; Costes B.; Plassa F.; Goossens M.;
Genomics 13:770-776(1992)
Cited for: VARIANTS VAL-44; MET-470; VAL-506; CYS-508; ALA-576; CYS-668; PHE-997; THR-1027 AND LEU-1162; VARIANTS CF GLY-44; ARG-178; ARG-225; TRP-334; PHE-508 DEL; 542-GLY--LEU-1480 DEL; ASP-551; ILE-562; ARG-628; 710-LYS--LEU-1480 DEL; 846-TRP--LEU-1480 DEL; CYS-913; 1063-TRP--LEU-1480 DEL; CYS-1066; 1092-TYR--LEU-1480 DEL; 1162-ARG--LEU-1480 DEL; GLU-1200; 1282-TRP--LEU-1480 DEL AND LYS-1303;

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.