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UniProtKB/Swiss-Prot P51168: Variant p.Gly37Ser

Amiloride-sensitive sodium channel subunit beta
Gene: SCNN1B
Variant information

Variant position:  37
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Glycine (G) to Serine (S) at position 37 (G37S, p.Gly37Ser).
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 glycine (G) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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

Variant description:  In PHA1B.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  37
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:   GPGYTYKELLVWYCDNTNTH  G PKRIICEGPKKKAMWFLLTL
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                         GPGYTYKELLVWYCDNTNTHGPKRIICEGPKKKAMWFLLTL

                              GPGYSYKELLVWYCNNTNTHGPKRIICEGPKKKAMWFLITL

Chimpanzee                    GPGYTYKELLVWYCDNTNTHGPKRIICEGPKKKAMWFLLTL

Mouse                         GPGYTYKELLVWYCNNTNTHGPKRIICEGPKKKAMWFLLTL

Rat                           GPGYTYKELLVWYCNNTNTHGPKRIICEGPKKKAMWFLLTL

Bovine                        GPGYTYKELLVWYCDNTNTHGPKRIICEGPKKKAMWFVLTL

Rabbit                        GPGYTYKELLVWYCDNTNTHGPKRIIREGPKKKAMWFLITL

Sheep                         GPGYTYKELLVWYCDNTNTHGPKRIICEGPKKKAMWFVLTL

Xenopus laevis                GPGYTYKELLVWFCDNTNTHGPKRIIKEGPKKRVMWFILTL

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.

TypePositionsDescription
Chain 1 – 640 Amiloride-sensitive sodium channel subunit beta
Topological domain 1 – 50 Cytoplasmic


Literature citations

Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1.
Chang S.S.; Grunder S.; Hanukoglu A.; Roesler A.; Mathew P.M.; Hanukoglu I.; Schild L.; Lu Y.; Shimkets R.A.; Nelson-Williams C.; Rossier B.C.; Lifton R.P.;
Nat. Genet. 12:248-253(1996)
Cited for: VARIANT PHA1B SER-37;

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.