Variant position: 294 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 526 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 GLTISNSCPANLPNIKRELT ACIFPTESEARALAKERQKKD
Mouse GLTISNSCPANLPNIKRELT ACIFPTESEARALAKERQKKD
Rat GLTISNSCPANLPNIKRELT ACIFPTESEARALAKERQKKD
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
1 – 526 Microphthalmia-associated transcription factor
224 – 295 Transactivation
289 – 289 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
293 – 298 Missing. In isoform Mdel and isoform 12.
294 – 299 Missing. In isoform A2, isoform B2, isoform C2, isoform H2 and isoform M2.
289 – 289 K -> R. Loss of sumoylation; when associated with R-423.
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: VARIANT WS2A THR-294;
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.