Variant position: 348 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 FIRDEGIYAMSGTETSIGVL VDKLQRMGEPYSPCTVNGSEV
Mouse FIREEGIYAMAGTETSIGVL VDKLQRKGEPYSPCTMNGSDV
Rat FIREEGIYAMAGTETSIGVL LDKLQGKGEPYSPCTMNGSDV
Rabbit FIREEGVDAMSGTETSIGVL VDKLQRKGEPYSPCTVNGSDV
Xenopus laevis FVKDLGIYAMPGTETSISVL VDQLEHMEAPYSSCTVNGSDI
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
76 – 514 Extracellular
364 – 364 N-linked (GlcNAc...)
Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.
Mutesa L.; Azad A.K.; Verhaeghe C.; Segers K.; Vanbellinghen J.F.; Ngendahayo L.; Rusingiza E.K.; Mutwa P.R.; Rulisa S.; Koulischer L.; Cassiman J.J.; Cuppens H.; Bours V.;
Cited for: VARIANT BESC1 MET-348; VARIANT VAL-442;
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