UniProtKB/Swiss-Prot P51170: Variant p.Ala502Pro

Amiloride-sensitive sodium channel subunit gamma
Gene: SCNN1G
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Variant information Variant position:

502 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Alanine (A) to Proline (P) at position 502 (A502P, p.Ala502Pro). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from small size and hydrophobic (A) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page

Sequence information 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:

PVLTWDQGRQVNKKLNKTDL A KLLIFYKDLNQRSIMESPAN 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                         PVLTWDQGRQVNKKLNKTDLAKLLIFYKDLNQRSIMESPAN

Chimpanzee                    PVLTWDQGRQVNKKLNKTDLAKLLIFYKDLNQRSIMESPAN

Mouse                         NVLTWDQSQQINKKLNKTDLAKLLIFYKDLNQRSIMESPAN

Rat                           NVLTWDQSQQINKKLNKTDLAKLLIFYKDLNQRSIMESPAN

Bovine                        SILTWDQSQQIKKKLNKTDLAKLLIFYKDLNQRSIMENPAN

Rabbit                        PVLTWDQGQQINKKLNKTDWAKLLIFYKDLNQRSIMESPAN

Xenopus laevis                RVLSWELGEKLNKNLTKNDLANLNIFYQDLNSRSISESPTY

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 – 649	Amiloride-sensitive sodium channel subunit gamma
Topological domain	77 – 541	Extracellular
Glycosylation	497 – 497	N-linked (GlcNAc...) asparagine
Beta strand	501 – 509

Literature citations
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;

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.