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:
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 SPGQRVGLLGRTGSGKSTLL SAFLRLLNTEGEIQIDGVSWD
Gorilla SPGQRVGLLGRTGSGKSTLL SAFLRLLNTEGEIQIDGVSWD
Rhesus macaque SPGQRVGLLGRTGSGKSTLL SAFLRLLNTEGEIQIDGVSWD
Chimpanzee SPGQRVGLLGRTGSGKSTLL SAFLRLLNTEGEIQIDGVSWD
Mouse SPGQRVGLLGRTGSGKSTLL SAFLRMLNIKGDIEIDGVSWN
Rat SPGQRVGLLGRTGSGKSTLL SAFLRMLNIKGEIQIDGVSWN
Pig SPGQRVGLLGRTGSGKSTLL LAFLRLLNTEGEIQVDGVSWD
Bovine SPGQRVGLLGRTGSGKSTLL LAFLRLLNTKGEIQIDGVSWD
Rabbit SPGQRVGLLGRTGSGKSTLL SAFLRLLNTEGEIQIDGVSWD
Sheep SPGQRVGLLGRTGSGKSTLL LAFLRLLNTKGEIQIDGVSWD
Horse SPGQRVGLLGRTGSGKSTLL SAFLRLLNTEGEIQIDGVSWD
Xenopus laevis SPGQRVGLLGRTGSGKSTLL SAFLRLLSTQGDIQIDGVSWQ
Zebrafish EGRQRVGILGRTGSGKSSLF NALLKLVYTDGEISIDGVNWN
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
1 – 1480 Cystic fibrosis transmembrane conductance regulator
1152 – 1480 Cytoplasmic
1210 – 1443 ABC transporter 2
606 – 1480 Missing. In isoform 3.
1250 – 1250 K -> M. No effect on maturation of glycans, suggesting that trafficking to the plasma membrane is not altered.
1250 – 1258
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.;
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;
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.