Variant position: 57 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 IYQIPSVDSADNLSEKLERE WDRELAS-KKNPKLINALRRCF
Gorilla IYQIPSVDSADNLSEKLERE WDRELAS-KKNPKLINALRRC
Rhesus macaque IYQIPSADSADNLSEKLERE WDRELAS-KKNPKLINALRRC
Chimpanzee IYQIPSVDSADNLSEKLERE WDRELAS-KKNPKLINALRRC
Mouse IYQAPSADSADHLSEKLERE WDREQAS-KKNPQLIHALRRC
Rat IYQAPSSDSADHLSEKLERE WDREQAS-KKKPQLIHALRRC
Pig IYHISSSDSADNLSEKLERE WDRELAS-KKNPKLINALRRC
Bovine IYHISSSDSADNLSEKLERE WDRELAS-KKNPKLINALRRC
Rabbit IYQIPSADSADNLSEKLERE WDRELAS-KKKPKLINALRRC
Sheep IYHISSSDSADNLSEKLERE WDRELAS-KKNPKLINALRRC
Horse IYQIPSADSADNLSEKLERE WDRELVS-KKNPKLINALRRC
Xenopus laevis IYQIHPGDSADNLSERLERE WDREVATSKKNPKLINALKRC
Zebrafish VYQAPSQDAADILAERLEKE WDREVASGKKKPSLLRAMARC
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
1 – 77 Cytoplasmic
46 – 63
Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.
Brancolini V.; Cremonesi L.; Belloni E.; Pappalardo E.; Bordoni R.; Seia M.; Russo S.; Padoan R.; Giunta A.; Ferrari M.;
Hum. Genet. 96:312-318(1995)
Cited for: VARIANTS CF GLY-57; LYS-193 AND GLY-579;
Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement.
Picci L.; Cameran M.; Olante P.; Zacchello F.; Scarpa M.;
Hum. Mutat. 13:173-173(1999)
Cited for: VARIANT CF GLY-579;
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.