Sequence information
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:
NTGPYPSEQALPIPGTPPPN
Y DSLRLQPLDVIESDSEGDAI
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 NTGPYPSEQALPIPGTPPPNY DSLRLQPLDVIESDSEGDAI
DPGTYPDEQTLPIPGTPPPNY DSLRLQPLDVIESDSEGDAI
Chimpanzee NTGPYPNEQALPIPGTPPPNY DSLRLQPLDVIESDSEGDAI
Mouse HGEVYPDQQTLPIPGTPPPNY DSLRLQPLDTMESDSEVEAI
Rat NAEVYPDQQTLPIPGTPPPNY DSLRLQPLDTMESDSEVEAI
Bovine DVEAYPHEQNPPIPGTPPPNY DSLRLQPLDVIESDSEGDAI
Rabbit DAEAYPDEQALPIPGTPPPNY DSLRLQPLDVVESDSEGDAV
Sheep DAGAYRREQNPPIPGTPPPNY DSLRLQPLDVIESDSEGDAI
Xenopus laevis ----------VDIPGTPPPNY DSLRVNTAEPVSSDEEN---
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
Chain
1 – 640
Amiloride-sensitive sodium channel subunit beta
Topological domain
554 – 640
Cytoplasmic
Modified residue
633 – 633
Phosphoserine
Modified residue
635 – 635
Phosphoserine
Literature citations
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;
Disclaimer:
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.