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:
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 IGNSTLLRIIYKNKCMRNGP NILIASLALGDLLHIVIDIPI
Mouse IGNSTLLRIIYKNKCMRNGP NILIASLALGDLLHIIIDIPI
Rat IGNSTLLRIIYKNKCMRNGP NILIASLALGDLLHIIIDIPI
Pig IGNSTLLRIIYKNKCMRNGP NILIASLALGDLLHIIIDIPI
Bovine IGNSTLLRIIYKNKCMRNGP NILIASLALGDLLHIIIDIPI
Rabbit IGNSTLLRIIYKNKCMRNGP NILIASLALGDLLHIIIDIPI
Horse IGNSTLLRIIYKNKCMRNGP NILIASLALGDLLHIIIDIPI
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.
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;
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.