Variant position: 374 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 DPNRCELLSFLLVLDYIGIN MASLNSCINPIALYLVSKRFK
Mouse NPHRCELLSFLLVLDYIGIN MASLNSCINPIALYLVSKRFK
Rat NPQRCELLSFLLVLDYIGIN MASLNSCINPIALYLVSKRFK
Pig DSNRCELLSFLLVLDYIGIN MASLNSCINPIALYLVSKRFK
Bovine DPRRCEFLSFLLVLDYIGIN MASLNSCINPIALYLVSKRFK
Rabbit DPNRCELLSFLLVLDYIGIN MASLNSCINPIALYLVSKRFK
Horse DPHRCELLSFLLVLEYIGIN MASLNSCINPIALYLVSKRFK
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.
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).
Hofstra R.M.W.; Tan-Sindhunata G.; Wu Y.; Kamsteeg E.-J.; Stulp R.P.; van Ravenswaaij-Arts C.; Majoor-Krakauer D.; Angrist M.; Chakravarti A.; Meijers C.; Buys C.H.C.M.;
Nat. Genet. 12:445-447(1996)
Cited for: VARIANT HSCR2 ILE-374; 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;
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.