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UniProtKB/Swiss-Prot P24530: Variant p.Gly57Ser

Endothelin receptor type B
Gene: EDNRB
Variant information

Variant position:  57
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 Glycine (G) to Serine (S) at position 57 (G57S, p.Gly57Ser).
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:  Associated with increased susceptibility for Hirschsprung disease; sex-dependent gene dosage effect.
Any additional useful information about the variant.

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



Sequence information

Variant position:  57
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  442
The length of the canonical sequence.

Location on the sequence:   TPLLQTAEIMTPPTKTLWPK  G SNASLARSLAPAEVPKGDRT
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                         T-PLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKGDRT

                              T-PLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKGDR

Mouse                         TLSLLGTKEVMTPPTKTSWTRGSNSSLMRSSAPAEVTKGGR

Rat                           TPSLLGTKEVMTPPTKTSWTRGSNSSLMRSSAPAEVTKGGR

Pig                           TPPALRTGEIVAPPTKTFWPRGSNASLPRSSSPPQMPKGGR

Bovine                        TQPLPGTGEMMETPTETSWPGRSNASDPRSSATPQIPRGGR

Rabbit                        TPPLLGASEILTPSTKTSWPRDSNASLPRSSAPAEIPKEGR

Horse                         TPPLLGFEEIMTPPTKTSWPTGSNASVPRLSAPPQMPKAGR

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 27 – 442 Endothelin receptor type B
Topological domain 27 – 101 Extracellular
Glycosylation 59 – 59 N-linked (GlcNAc...) asparagine


Literature citations

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.
Amiel J.; Attie T.; Jan D.; Pelet A.; Edery P.; Bidaud C.; Lacombe D.; Tam P.; Simeoni J.; Flori E.; Nihoul-Fekete C.; Munnich A.; Lyonnet S.;
Hum. Mol. Genet. 5:355-357(1996)
Cited for: VARIANTS HSCR2 TRP-319 AND LEU-383; VARIANT SER-57;

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).
Hofstra R.M.W.; Tan-Sindhunata G.; Wu Y.; Kamsteeg E.-J.; Stulp R.P.; van Ravenswaaij-Arts C.; Majoor-Krakauer D.; Angrist M.; Chakravarti A.; Meijers C.; Buys C.H.C.M.;
Nat. Genet. 12:445-447(1996)
Cited for: VARIANT HSCR2 ILE-374; VARIANT SER-57;

Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B).
Svensson P.J.; Anvret M.; Molander M.L.; Nordenskjold A.;
Hum. Genet. 103:145-148(1998)
Cited for: VARIANT SER-57;

Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling.
Fuchs S.; Amiel J.; Claudel S.; Lyonnet S.; Corvol P.; Pinet F.;
Mol. Med. 7:115-124(2001)
Cited for: CHARACTERIZATION OF VARIANTS HSCR2 TRP-319 AND LEU-383; CHARACTERIZATION OF VARIANT SER-57;

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.