Variant position: 226 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 565 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 RCRNISGTLYKNRLGSGGRG RCIKQGENWYSPTEFEAMAGR
Chimpanzee RCRNISGTLYKNRLGSGGRG RCIKQGENWYSPTEFEAMAGR
Mouse RCRNISGTLYKSRLGSGGRG RCIKQGENWYSPTEFEAMAGR
Rat RCRNISGTLYKSRLGSGGRG RCIKQGENWYSPTEFEAMAGR
Drosophila RCKTTCAELYRSKLGSGGRG RCVKYKDKWHTPSEFEHVCGR
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 – 565 Deformed epidermal autoregulatory factor 1 homolog
193 – 273 SAND
223 – 333 GRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNITLLPATAATTF -> WDLKPSRCLLHLCCLLRRHDLI. In isoform 4.
215 – 215 Y -> Q. Reduces transcription activation.
226 – 226 R -> A. Reduces transcription activation.
246 – 246 R -> A. Reduces transcription activation.
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
Faqeih E.A.; Al-Owain M.; Colak D.; Kenana R.; Al-Yafee Y.; Al-Dosary M.; Al-Saman A.; Albalawi F.; Al-Sarar D.; Domiaty D.; Daghestani M.; Kaya N.;
Am. J. Med. Genet. A 164A:1565-1570(2014)
Cited for: VARIANT TRP-226;
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