Variant position: 917 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 HSRNNSYAVIITSTSSYYVF YIYVGVADTLLAMGFFRGLPL
Gorilla HSRNNSYAVIITSTSSYYVF YIYVGVADTLLAMGFFRGLPL
Rhesus macaque YSRNNSYAVIITRTSSYYVF YIYVGVADTLLAMGFFRGLPL
Chimpanzee HSRNNSYAVIITSTSSYYVF YIYVGVADTLLAMGFFRGLPL
Mouse KISNSSYVVIITSTSFYYIF YIYVGVADTLLALSLFRGLPL
Rat KIANTSYVVVITSSSFYYIF YIYVGVADTLLALSLFRGLPL
Pig KGANNSYAVIITSTSAYYVF YIYVGVADGLLALGLFRGLPL
Bovine KSANNSYAVIITSTSSYYIF YIYVGVADTLLALGLFRGLPL
Rabbit KSGNSSYAVIITNTSSYYFF YIYVGVADTLLALGLFRGLPL
Sheep KNASNSYAVIITSTSSYYIF YIYVGVADTLLALGLFRGLPL
Horse KGANNSYAVIITSTSSYYVF YIYVGVADTLLALGLFRGLPL
Xenopus laevis SEVSDTLSVIVTHTSFYYVF YIYVGVADSLLALGIFRGLPL
Zebrafish SSSGQTYAITVTPTSSYYIL YIYVATSESLLAMGFFRGLPF
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
880 – 918 Extracellular
859 – 1155 ABC transmembrane type-1 2
900 – 900 N-linked (GlcNAc...) asparagine
606 – 1480 Missing. In isoform 3.
900 – 900 N -> D. Abolishes N-glycosylation, enhances endocytosis and impairs subsequent recycling to the cell surface; when associated with D-894.
915 – 921
No reference for the current variant in UniProtKB/Swiss-Prot.
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.