Variant position: 1137 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 ISILTTGEGEGRVGIILTLA MNIMSTLQWAVNSSIDVDSLM
Gorilla ISILTTGEGEGRVGIILTLA MNIMSTLQWAVNSSIDVDSLM
Rhesus macaque ISILTTGEGEGTVGIILTLA MNIMSTLQWAVNSSIDVDSLM
Chimpanzee ISILTTGEGEGRVGIILTLA MNIMSTLQWAVNSSIDVDSLM
Mouse ISILTTGEGEGTAGIILTLA MNIMSTLQWAVNSSIDTDSLM
Rat ISILTTGEGEGTTGIILTLA MNIMSTLQWAVNSSIDTDSLM
Pig ISILTTGEGEGTVGIILTLA MNIMSTLQWAVNSSIDVDSLM
Bovine ISILTTGEGEGRVGIILTLA MNIMGTLQWAVNSSIDVDSLM
Rabbit ISILTTGEGEGRVGIILTLA MNIMSTLQWAVNSSIDVDSLM
Sheep ISILTTGEGEGRVGIILTLA MNIMGTLQWAVNSSIDVDSLM
Horse ISILTTGEGEGTVGIILTLA MNIMSTLQWAVNSSIDVDSLM
Xenopus laevis ISIATSGAGEEKVGIVLTLA MNIMNTLQWAVNASIDVDSLM
Zebrafish IAVGTNQDKPGEIGIIICLA MLILGTFQWCVATSIAVDGMM
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
1131 – 1151 Helical; Name=12
859 – 1155 ABC transmembrane type-1 2
606 – 1480 Missing. In isoform 3.
1137 – 1137 M -> R. Abolishes channel activity. Impairs protein maturation, suggesting the protein is retained in the endoplasmic reticulum.
1139 – 1139 I -> V. Decreases channel activity, no visible effect on protein maturation.
1154 – 1154 D -> G. Decreases channel activity, no visible effect on protein maturation.
1129 – 1167
Characterization of mutations located in exon 18 of the CFTR gene.
Vankeerberghen A.; Wei L.; Teng H.; Jaspers M.; Cassiman J.J.; Nilius B.; Cuppens H.;
FEBS Lett. 437:1-4(1998)
Cited for: CHARACTERIZATION OF VARIANTS CF VAL-1137; MET-1140 DEL AND HIS-1152; MUTAGENESIS OF MET-1137; ILE-1139 AND ASP-1154; SUBCELLULAR LOCATION; FUNCTION;
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.