UniProtKB/Swiss-Prot P24530: Variant p.Pro156Arg

Endothelin receptor type B
Gene: EDNRB
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Variant information Variant position:

156 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Proline (P) to Arginine (R) at position 156 (P156R, p.Pro156Arg). 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 hydrophobic (P) to large size and basic (R) 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:

Found in patients with Waardenburg syndrome 2; likely pathogenic; loss of cell membrane location; new cytoplasmic location. Any additional useful information about the variant.

Sequence information Variant position:

156 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:

PNILIASLALGDLLHIVIDI P INVYKLLAEDWPFGAEMCKL 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                         PNILIASLALGDLLHIVIDIPINVYKLLAEDWPFGAEMCKL

                              PNILIASLALGDLLHIIIDIPITVYKLLAEDWPFGVEMCKL

Mouse                         PNILIASLALGDLLHIIIDIPINTYKLLAEDWPFGAEMCKL

Rat                           PNILIASLALGDLLHIIIDIPINAYKLLAGDWPFGAEMCKL

Pig                           PNILIASLALGDLLHIIIDIPINVYKLLAEDWPFGVEMCKL

Bovine                        PNILIASLALGDLLHIIIDIPINTYKLLAKDWPFGVEMCKL

Rabbit                        PNILIASLALGDLLHIIIDIPINVYKLLAEDWPFGAEMCKL

Horse                         PNILIASLALGDLLHIIIDIPINVYKLLAEDWPFGVEMCKL

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
Chain	27 – 442	Endothelin receptor type B
Transmembrane	138 – 163	Helical; Name=2
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.