Variant position: 319 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 EMLRKKSGMQIALNDHLKQR REVAKTVFCLVLVFALCWLPL
Mouse EMLRKKSGMQIALNDHLKQR REVAKTVFCLVLVFALCWLPL
Rat EMLRKKSGMQIALNDHLKQR REVAKTVFCLVLVFALCWLPL
Pig EMLRKKSGMQIALNDHLKQR REVAKTVFCLVLVFALCWLPL
Bovine EMLRKKSGMQIALNDHLKQR REVAKTVFCLVLVFALCWLPL
Rabbit EMLRKKSGMQIALNDHLKQR REVAKTVFCLVLVFGLCWLAL
Horse EMLRKKSGMQIALNDHLKQR REVAKTVFCLVLVFALCWLPL
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.
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;
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;
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.