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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Gln1291Arg

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 1291 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Glutamine (Q) to Arginine (R) at position 1291 (Q1291R, p.Gln1291Arg). 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: help Change from medium size and polar (Q) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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

Variant description: help In CF. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1291 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1480 The length of the canonical sequence.
Location on the sequence: help GVSWDSITLQQWRKAFGVIP Q KVFIFSGTFRKNLDPYEQWS 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         GVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWS

Gorilla                       GVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWS

                              GVSWDSIPLQEWRRAFGVIPQKVFIFSGTFRKNLDPYGQWN

Rhesus macaque                GVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWS

Chimpanzee                    GVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWS

Mouse                         GVSWNSVTLQEWRKAFGVITQKVFIFSGTFRQNLDPNGKWK

Rat                           GVSWNSMTLQEWRKAFGVITQKVFIFSGTFRQNLDPNGKWR

Pig                           GVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYGQWN

Bovine                        GVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYGQWS

Rabbit                        GVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWS

Sheep                         GVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWS

Horse                         GVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYGQWN

Xenopus laevis                GVSWQTIPLQKWRKAFGVIPQKVFIFSGSIRKNLDPYGKWS

Zebrafish                     GVNWNKMPLQKWRKAFGVVPQKVFIFTGPLRMNLDPYGCHS

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 1480 Cystic fibrosis transmembrane conductance regulator
Topological domain 1152 – 1480 Cytoplasmic
Domain 1210 – 1443 ABC transporter 2
Alternative sequence 606 – 1480 Missing. In isoform 3.



Literature citations
Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.
Doerk T.; Mekus F.; Schmidt K.; Bosshammer J.; Fislage R.; Heuer T.; Dziadek V.; Neumann T.; Kaelin N.; Wulbrand U.; Wulf B.; von der Hardt H.; Maass G.; Tuemmler B.;
Hum. Genet. 94:533-542(1994)
Cited for: VARIANTS CF TYR-199; SER-619; ARG-1005 AND ARG-1291;
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.