Variant position: 267 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 640 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 LACLFGAEPCNYRNFTSIFY PHYGNCYIFNWGMT-EKALPSA
Chimpanzee LACLFGAEPCNYRNFTSIFY PHYGNCYIFNWGMT-EKALPS
Mouse LACLFGTEPCSHRNFTPIFY PDYGNCYIFNWGMT-EETLPS
Rat LACLFGTEPCSHRNFTPIFY PDYGNCYIFNWGMT-EKALPS
Bovine LACLFGAEPCNYRNFTPIFH PDYGNCYIFNWGMT-EKALPS
Rabbit LACLFGAEPCSYRNFTSIFY PDYGNCYVFNWGMT-EKALPS
Sheep LACLFGAEPCNYRNFTPIFH PDYGNCYIFNWGMT-EKALPS
Xenopus laevis LTCLFGGQPCSYRNFTHIYD ADYGNCYIFNWGQEGENTMSS
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 – 640 Amiloride-sensitive sodium channel subunit beta
72 – 532 Extracellular
260 – 260 N-linked (GlcNAc...) asparagine
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.
Sheridan M.B.; Fong P.; Groman J.D.; Conrad C.; Flume P.; Diaz R.; Harris C.; Knowles M.; Cutting G.R.;
Hum. Mol. Genet. 14:3493-3498(2005)
Cited for: VARIANTS BESC1 CYS-82; LEU-267; SER-294 AND LYS-539; CHARACTERIZATION OF VARIANTS BESC1 LEU-267; SER-294 AND LYS-539;
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.