Variant position: 1270 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 KSTLLSAFLRLLNTEGEIQI DGVSWDSITLQQWRKAFGVIP
Gorilla KSTLLSAFLRLLNTEGEIQI DGVSWDSITLQQWRKAFGVIP
Rhesus macaque KSTLLSAFLRLLNTEGEIQI DGVSWDSITLQQWRKAFGVIP
Chimpanzee KSTLLSAFLRLLNTEGEIQI DGVSWDSITLQQWRKAFGVIP
Mouse KSTLLSAFLRMLNIKGDIEI DGVSWNSVTLQEWRKAFGVIT
Rat KSTLLSAFLRMLNIKGEIQI DGVSWNSMTLQEWRKAFGVIT
Pig KSTLLLAFLRLLNTEGEIQV DGVSWDSITLQQWRKAFGVIP
Bovine KSTLLLAFLRLLNTKGEIQI DGVSWDSITLQQWRKAFGVIP
Rabbit KSTLLSAFLRLLNTEGEIQI DGVSWDSITLQQWRKAFGVIP
Sheep KSTLLLAFLRLLNTKGEIQI DGVSWDSITLQQWRKAFGVIP
Horse KSTLLSAFLRLLNTEGEIQI DGVSWDSITLQQWRKAFGVIP
Xenopus laevis KSTLLSAFLRLLSTQGDIQI DGVSWQTIPLQKWRKAFGVIP
Zebrafish KSSLFNALLKLVYTDGEISI DGVNWNKMPLQKWRKAFGVVP
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.
1261 – 1271
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
Ratbi I.; Legendre M.; Niel F.; Martin J.; Soufir J.C.; Izard V.; Costes B.; Costa C.; Goossens M.; Girodon E.;
Hum. Reprod. 22:1285-1291(2007)
Cited for: VARIANTS GLN-75 AND MET-470; VARIANTS CBAVD TRP-74; HIS-110; HIS-117; HIS-170; TRP-206; ASP-232; TRP-334; TYR-443; PHE-508 DEL; VAL-556; ILE-562; ALA-576; ASP-622; CYS-668; GLY-938; ILE-952; VAL-959; PHE-977; PHE-997; CYS-1032; ARG-1069; HIS-1152; GLU-1153; ASN-1270; 1282-TRP--LEU-1480 DEL; HIS-1352 AND 1473-GLU--LEU-1480 DEL;
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.