Variant position: 616 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 PRSPNTGPYPSEQALPIPGT PPPNYDSLRLQPLDVIESDSE
Mouse SCRPHGEVYPDQQTLPIPGT PPPNYDSLRLQPLDTMESDSE
Rat SCRPNAEVYPDQQTLPIPGT PPPNYDSLRLQPLDTMESDSE
Rabbit HRSPDAEAYPDEQALPIPGT PPPNYDSLRLQPLDVVESDSE
Xenopus laevis DHVP----------VDIPGT PPPNYDSLRVNTAEPVSSDEE
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
546 – 640 Cytoplasmic
Genetic analysis of the epithelial sodium channel in Liddle's syndrome.
Uehara Y.; Sasaguri M.; Kinoshita A.; Tsuji E.; Kiyose H.; Taniguchi H.; Noda K.; Ideishi M.; Inoue J.; Tomita K.; Arakawa K.;
J. Hypertens. 16:1131-1135(1998)
Cited for: VARIANTS LIDDS LEU-616 AND SER-616;
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