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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Gly1244Glu

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 1244 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 Glycine (G) to Glutamate (E) at position 1244 (G1244E, p.Gly1244Glu). 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 glycine (G) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In CF; loss of bicarbonate transport; no effect on protein maturation, subcellular location at the plasma membrane, nor on chloride channel activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1244 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 NAILENISFSISPGQRVGLL G RTGSGKSTLLSAFLRLLNTE 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                         NAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTE

Gorilla                       NAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTE

                              NAILENISFSISPGQRVGLLGRTGSGKSTLLSALLRLVNTE

Rhesus macaque                NPILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTE

Chimpanzee                    NAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTE

Mouse                         NAVLENISFSISPGQRVGLLGRTGSGKSTLLSAFLRMLNIK

Rat                           NAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRMLNIK

Pig                           NAVLENISFSISPGQRVGLLGRTGSGKSTLLLAFLRLLNTE

Bovine                        NAILENISFSISPGQRVGLLGRTGSGKSTLLLAFLRLLNTK

Rabbit                        NAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTE

Sheep                         NAILENISFSISPGQRVGLLGRTGSGKSTLLLAFLRLLNTK

Horse                         NAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTE

Xenopus laevis                NTVLENISFSLSPGQRVGLLGRTGSGKSTLLSAFLRLLSTQ

Zebrafish                     HAVLKNLSFSAEGRQRVGILGRTGSGKSSLFNALLKLVYTD
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
Binding site 1244 – 1251
Alternative sequence 606 – 1480 Missing. In isoform 3.
Mutagenesis 1250 – 1250 K -> A. Decreases glutathione uptake.
Mutagenesis 1250 – 1250 K -> M. No effect on maturation of glycans, suggesting that trafficking to the plasma membrane is not altered.



Literature citations
Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.
Choi J.Y.; Muallem D.; Kiselyov K.; Lee M.G.; Thomas P.J.; Muallem S.;
Nature 410:94-97(2001)
Cited for: CHARACTERIZATION OF VARIANTS CF HIS-117; THR-148; ARG-178; LYS-193; ASP-551; SER-551; GLN-620; VAL-648; GLY-800; TYR-949; THR-1067; GLN-1070; GLU-1244; PRO-1255 AND ASP-1349;
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.