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:
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-PLLQTAEIMTPPTKTLWPK GSNASLARSLAPAEVPKGDRT
Mouse TLSLLGTKEVMTPPTKTSWTR GSNSSLMRSSAPAEVTKGGR
Rat TPSLLGTKEVMTPPTKTSWTR GSNSSLMRSSAPAEVTKGGR
Pig TPPALRTGEIVAPPTKTFWPR GSNASLPRSSSPPQMPKGGR
Bovine TQPLPGTGEMMETPTETSWPG RSNASDPRSSATPQIPRGGR
Rabbit TPPLLGASEILTPSTKTSWPR DSNASLPRSSAPAEIPKEGR
Horse TPPLLGFEEIMTPPTKTSWPT GSNASVPRLSAPPQMPKAGR
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
27 – 442 Endothelin receptor type B
27 – 101 Extracellular
59 – 59 N-linked (GlcNAc...) asparagine
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;
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