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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P24530: Variant p.Pro383Leu

Endothelin receptor type B
Gene: EDNRB
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Variant information Variant position: help 383 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Proline (P) to Leucine (L) at position 383 (P383L, p.Pro383Leu). 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: help Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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: help In HSCR2; familial; loss of cell membrane location; new cytoplasmic location. Any additional useful information about the variant.


Sequence information Variant position: help 383 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 442 The length of the canonical sequence.
Location on the sequence: help FLLVLDYIGINMASLNSCIN P IALYLVSKRFKNCFKSCLCC 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         FLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKSCLCC

                              FLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKSCLCC

Mouse                         FLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKSCLCC

Rat                           FLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKSCLCC

Pig                           FLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKSCLCC

Bovine                        FLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKSCLCC

Rabbit                        FLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKSCLCC

Horse                         FLLVLEYIGINMASLNSCINPIALYLVSKRFKNCFKWCLCC

Sequence annotation in neighborhood: help 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
Transmembrane 363 – 389 Helical; Name=7
Lipidation 402 – 402 S-palmitoyl cysteine
Lipidation 403 – 403 S-palmitoyl cysteine
Mutagenesis 402 – 402 C -> S. Abolishes palmitoylation; when associated with S-403 and S-405.
Mutagenesis 403 – 403 C -> S. Abolishes palmitoylation; when associated with S-402 and S-405.
Helix 358 – 389



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; 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; EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state.
Issa S.; Bondurand N.; Faubert E.; Poisson S.; Lecerf L.; Nitschke P.; Deggouj N.; Loundon N.; Jonard L.; David A.; Sznajer Y.; Blanchet P.; Marlin S.; Pingault V.;
Hum. Mutat. 38:581-593(2017)
Cited for: VARIANTS PHE-17; PRO-17; TYR-137; ARG-156 AND 226-TRP--SER-442 DEL; INVOLVEMENT IN WAARDENBURG SYNDROME 2; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS PHE-17; PRO-17; TYR-137; ARG-156 AND 226-TRP--SER-442 DEL; CHARACTERIZATION OF VARIANTS HSCR2 ILE-374 AND LEU-383;
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.