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UniProtKB/Swiss-Prot P13569: Variant p.Ser1255Pro

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Variant information

Variant position:  1255
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 Serine (S) to Proline (P) at position 1255 (S1255P, p.Ser1255Pro).
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 small size and polar (S) to medium size and hydrophobic (P)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  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:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1255
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:   SPGQRVGLLGRTGSGKSTLL  S AFLRLLNTEGEIQIDGVSWD
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                         SPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWD

Gorilla                       SPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWD

                              SPGQRVGLLGRTGSGKSTLLSALLRLVNTEGEIQIDGVSWD

Rhesus macaque                SPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWD

Chimpanzee                    SPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWD

Mouse                         SPGQRVGLLGRTGSGKSTLLSAFLRMLNIKGDIEIDGVSWN

Rat                           SPGQRVGLLGRTGSGKSTLLSAFLRMLNIKGEIQIDGVSWN

Pig                           SPGQRVGLLGRTGSGKSTLLLAFLRLLNTEGEIQVDGVSWD

Bovine                        SPGQRVGLLGRTGSGKSTLLLAFLRLLNTKGEIQIDGVSWD

Rabbit                        SPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWD

Sheep                         SPGQRVGLLGRTGSGKSTLLLAFLRLLNTKGEIQIDGVSWD

Horse                         SPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWD

Xenopus laevis                SPGQRVGLLGRTGSGKSTLLSAFLRLLSTQGDIQIDGVSWQ

Zebrafish                     EGRQRVGILGRTGSGKSSLFNALLKLVYTDGEISIDGVNWN

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
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.
Helix 1250 – 1258


Literature citations

A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene.
Lissens W.; Bonduelle M.; Malfroot A.; Dab I.; Liebaers I.;
Hum. Mol. Genet. 1:441-442(1992)
Cited for: VARIANT CF PRO-1255;

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.