Variant position: 502 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 649 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 PVLTWDQGRQVNKKLNKTDL AKLLIFYKDLNQRSIMESPAN
Chimpanzee PVLTWDQGRQVNKKLNKTDL AKLLIFYKDLNQRSIMESPAN
Mouse NVLTWDQSQQINKKLNKTDL AKLLIFYKDLNQRSIMESPAN
Rat NVLTWDQSQQINKKLNKTDL AKLLIFYKDLNQRSIMESPAN
Bovine SILTWDQSQQIKKKLNKTDL AKLLIFYKDLNQRSIMENPAN
Rabbit PVLTWDQGQQINKKLNKTDW AKLLIFYKDLNQRSIMESPAN
Xenopus laevis RVLSWELGEKLNKNLTKNDL ANLNIFYQDLNSRSISESPTY
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 – 649 Amiloride-sensitive sodium channel subunit gamma
77 – 541 Extracellular
497 – 497 N-linked (GlcNAc...) asparagine
Cloning and expression of the beta- and gamma-subunits of the human epithelial sodium channel.
McDonald F.J.; Snyder P.M.; Price M.P.; Welsh M.J.;
Am. J. Physiol. 268:C1157-C1163(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS TRP-178; PRO-502 AND SER-614; SUBUNIT;
Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel alpha-, beta-, and gamma-subunit genes.
Saxena A.; Hanukoglu I.; Saxena D.; Thompson R.J.; Gardiner R.M.; Hanukoglu A.;
J. Clin. Endocrinol. Metab. 87:3344-3350(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT PRO-502;
Genomic organization and the 5' flanking region of the gamma subunit of the human amiloride-sensitive epithelial sodium channel.
Thomas C.P.; Doggett N.A.; Fisher R.; Stokes J.B.;
J. Biol. Chem. 271:26062-26066(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 1-105; 218-269; 306-392; 433-463 AND 499-515; VARIANT PRO-502;
Polymorphisms of amiloride-sensitive sodium channel subunits in five sporadic cases of pseudohypoaldosteronism: do they have pathologic potential?
Arai K.; Zachman K.; Shibasaki T.; Chrousos G.P.;
J. Clin. Endocrinol. Metab. 84:2434-2437(1999)
Cited for: VARIANTS TRP-178; PRO-502 AND SER-614;
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.