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UniProtKB/Swiss-Prot P24530: Variant p.Asn137Tyr

Endothelin receptor type B
Gene: EDNRB
Variant information

Variant position:  137
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 Asparagine (N) to Tyrosine (Y) at position 137 (N137Y, p.Asn137Tyr).
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 medium size and polar (N) to large size and aromatic (Y)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  Probable disease-associated variant found in patients with Waardenburg syndrome 2; decreased calcium release upon endothelin 3 exposure; loss of downstream pathway activation upon endothelin 3 exposure; no effect on cell membrane location; no effect on internalization upon endothelin 3 exposure.
Any additional useful information about the variant.



Sequence information

Variant position:  137
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:   IGNSTLLRIIYKNKCMRNGP  N ILIASLALGDLLHIVIDIPI
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                         IGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPI

                              IGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIIIDIPI

Mouse                         IGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIIIDIPI

Rat                           IGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIIIDIPI

Pig                           IGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIIIDIPI

Bovine                        IGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIIIDIPI

Rabbit                        IGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIIIDIPI

Horse                         IGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIIIDIPI

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 127 – 137 Cytoplasmic
Helix 135 – 164


Literature citations

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.