Variant position: 405 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 NRHLLLRIQELEMQARAHGL SLIPSTGLCSPDLVNRIIKQE
Mouse NRHLLLRVQELEMQARAHGL SLIPSTGLCSPDLVNRIIKQE
Rat NRHLLLRVQELEMQARAHGL SLIPSTGLCSPDLVNRIIKQE
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
401 – 431 DNA-binding regulation
405 – 405 Phosphoserine; by GSK3
414 – 414 Phosphoserine
423 – 423 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
405 – 405 S -> AP. Loss of phosphorylation and function.
423 – 423 K -> R. Loss of sumoylation; when associated with R-289.
The mutational spectrum in Waardenburg syndrome.
Tassabehji M.; Newton V.E.; Liu X.-Z.; Brady A.; Donnai D.; Krajewska-Walasek M.; Murday V.; Norman A.; Obersztyn E.; Reardon W.; Rice J.C.; Trembath R.; Wieacker P.; Whiteford M.; Winter R.; Read A.P.;
Hum. Mol. Genet. 4:2131-2137(1995)
Cited for: VARIANTS WS2A LYS-310; ARG-324 DEL; PRO-357; ASP-385 AND PRO-405;
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.