Variant position: 385 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 QREQQRAKELENRQKKLEHA NRHLLLRIQELEMQARAHGLS
Mouse QREQQRAKDLENRQKKLEHA NRHLLLRVQELEMQARAHGLS
Rat QREQQRAKDLENRQKKLEHA NRHLLLRVQELEMQARAHGLS
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
374 – 395 Leucine-zipper
355 – 402
405 – 405 Phosphoserine; by GSK3
405 – 405 S -> AP. Loss of phosphorylation and function.
357 – 401
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.