Variant position: 614 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 P-ALDI-----DDDLPTFNSALHLPP ALGTQVPGTPPPKYNTLRLER
Chimpanzee P-ALDI-----DDDLPTFNSALHLPP ALGTQVPGTPPPKYN
Mouse P-ALDT-----DDDLPTFTSAMRLPP APEAPVPGTPPPRYN
Rat P-ALDT-----DDDLPTFTSAMRLPP APGSTVPGTPPPRYN
Bovine P-SLDI-----DDDLPTFTSALSLPP APGSQVPGTPPPRYN
Rabbit P-ALEI-----DDDLPTFTSALSLPP APGAQVPGTPPPRYN
Xenopus laevis PLCVDNPICLGEEDPPTFNSALQLPQ SQDSHVPRTPPPKYN
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
563 – 649 Cytoplasmic
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;
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;
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