Variant position: 618 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 SPNTGPYPSEQALPIPGTPP PNYDSLRLQPLDVIESDSEGD
Chimpanzee SPNTGPYPNEQALPIPGTPP PNYDSLRLQPLDVIESDSEGD
Mouse RPHGEVYPDQQTLPIPGTPP PNYDSLRLQPLDTMESDSEVE
Rat RPNAEVYPDQQTLPIPGTPP PNYDSLRLQPLDTMESDSEVE
Bovine GPDVEAYPHEQNPPIPGTPP PNYDSLRLQPLDVIESDSEGD
Rabbit SPDAEAYPDEQALPIPGTPP PNYDSLRLQPLDVVESDSEGD
Sheep GPDAGAYRREQNPPIPGTPP PNYDSLRLQPLDVIESDSEGD
Xenopus laevis VP----------VDIPGTPP PNYDSLRVNTAEPVSSDEEN-
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
554 – 640 Cytoplasmic
633 – 633 Phosphoserine
635 – 635 Phosphoserine
Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit.
Furuhashi M.; Kitamura K.; Adachi M.; Miyoshi T.; Wakida N.; Ura N.; Shikano Y.; Shinshi Y.; Sakamoto K.; Hayashi M.; Satoh N.; Nishitani T.; Tomita K.; Shimamoto K.;
J. Clin. Endocrinol. Metab. 90:340-344(2005)
Cited for: VARIANT LIDLS ARG-618;
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