Variant position: 620 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 NTGPYPSEQALPIPGTPPPN YDSLRLQPLDVIESDSEGDAI
Chimpanzee NTGPYPNEQALPIPGTPPPN YDSLRLQPLDVIESDSEGDAI
Mouse HGEVYPDQQTLPIPGTPPPN YDSLRLQPLDTMESDSEVEAI
Rat NAEVYPDQQTLPIPGTPPPN YDSLRLQPLDTMESDSEVEAI
Bovine DVEAYPHEQNPPIPGTPPPN YDSLRLQPLDVIESDSEGDAI
Rabbit DAEAYPDEQALPIPGTPPPN YDSLRLQPLDVVESDSEGDAV
Sheep DAGAYRREQNPPIPGTPPPN YDSLRLQPLDVIESDSEGDAI
Xenopus laevis ----------VDIPGTPPPN YDSLRVNTAEPVSSDEEN---
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 disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.
Tamura H.; Schild L.; Enomoto N.; Matsui N.; Marumo F.; Rossier B.C.;
J. Clin. Invest. 97:1780-1784(1996)
Cited for: VARIANT LIDLS1 HIS-620; CHARACTERIZATION OF VARIANT LIDLS1 HIS-620;
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.