Variant position: 208 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 334 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 SSSYDGLCRIWDTASGQCLK TLIDDDNPPVSFVKFSPNGKY
Mouse SSSYDGLCRIWDTASGQCLK TLIDDDNPPVSFVKFSPNGKY
Rat SSSYDGLCRIWDTASGQCLK TLIDDDNPPVSFVKFSPNGKY
Bovine SSSYDGLCRIWDTASGQCLK TLIDDDNPPVSFVKFSPNGKY
Xenopus tropicalis SSSYDGLCRIWDTASGQCLK TLIDDDNPPVSFVKFSPNGKY
Slime mold SGSYDGTVRIWDTTTGQLLN TISTEDGKEVSFVKFSPNGKF
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
2 – 334 WD repeat-containing protein 5
169 – 208 WD 4
225 – 225 N -> A. Loss of interaction with RBBP5 and reduced ability to stimulate KMT2A methyltransferase activity in association with RBBP5 and ASH2L.
205 – 211
A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development.
Eising E.; Carrion-Castillo A.; Vino A.; Strand E.A.; Jakielski K.J.; Scerri T.S.; Hildebrand M.S.; Webster R.; Ma A.; Mazoyer B.; Francks C.; Bahlo M.; Scheffer I.E.; Morgan A.T.; Shriberg L.D.; Fisher S.E.;
Mol. Psychiatry 0:0-0(2018)
Cited for: VARIANT MET-208;
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.