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UniProtKB/Swiss-Prot P13569: Variant p.Gly1249Glu

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Variant information

Variant position:  1249
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Glycine (G) to Glutamate (E) at position 1249 (G1249E, p.Gly1249Glu).
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 glycine (G) to medium size and acidic (E)
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

Variant description:  In CF.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1249
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:   NISFSISPGQRVGLLGRTGS  G KSTLLSAFLRLLNTEGEIQI
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                         NISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQI

Gorilla                       NISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQI

                              NISFSISPGQRVGLLGRTGSGKSTLLSALLRLVNTEGEIQI

Rhesus macaque                NISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQI

Chimpanzee                    NISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQI

Mouse                         NISFSISPGQRVGLLGRTGSGKSTLLSAFLRMLNIKGDIEI

Rat                           NISFSISPGQRVGLLGRTGSGKSTLLSAFLRMLNIKGEIQI

Pig                           NISFSISPGQRVGLLGRTGSGKSTLLLAFLRLLNTEGEIQV

Bovine                        NISFSISPGQRVGLLGRTGSGKSTLLLAFLRLLNTKGEIQI

Rabbit                        NISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQI

Sheep                         NISFSISPGQRVGLLGRTGSGKSTLLLAFLRLLNTKGEIQI

Horse                         NISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQI

Xenopus laevis                NISFSLSPGQRVGLLGRTGSGKSTLLSAFLRLLSTQGDIQI

Zebrafish                     NLSFSAEGRQRVGILGRTGSGKSSLFNALLKLVYTDGEISI

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.

TypePositionsDescription
Chain 1 – 1480 Cystic fibrosis transmembrane conductance regulator
Topological domain 1152 – 1480 Cytoplasmic
Domain 1210 – 1443 ABC transporter 2
Nucleotide binding 1244 – 1251 ATP 2
Alternative sequence 606 – 1480 Missing. In isoform 3.
Mutagenesis 1250 – 1250 K -> M. No effect on maturation of glycans, suggesting that trafficking to the plasma membrane is not altered.


Literature citations

A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Greil I.; Wagner K.; Rosenkranz W.;
Hum. Hered. 44:238-240(1994)
Cited for: VARIANT CF GLU-1249;

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.