UniProtKB/Swiss-Prot O75398: Variant p.Arg226Trp

Deformed epidermal autoregulatory factor 1 homolog
Gene: DEAF1
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Variant information Variant position:

226 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Tryptophan (W) at position 226 (R226W, p.Arg226Trp). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs587777623 [ dbSNP | Ensembl ]

Sequence information 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:

RCRNISGTLYKNRLGSGGRG R CIKQGENWYSPTEFEAMAGR 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                         RCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGR

Chimpanzee                    RCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEFEAMAGR

Mouse                         RCRNISGTLYKSRLGSGGRGRCIKQGENWYSPTEFEAMAGR

Rat                           RCRNISGTLYKSRLGSGGRGRCIKQGENWYSPTEFEAMAGR

Drosophila                    RCKTTCAELYRSKLGSGGRGRCVKYKDKWHTPSEFEHVCGR

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
Chain	1 – 565	Deformed epidermal autoregulatory factor 1 homolog
Domain	193 – 273	SAND
Alternative sequence	223 – 333	GRGRCIKQGENWYSPTEFEAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPYKRRKKENELPTTPVKKDSPKNITLLPATAATTF -> WDLKPSRCLLHLCCLLRRHDLI. In isoform 4.
Mutagenesis	215 – 215	Y -> Q. Reduces transcription activation.
Mutagenesis	226 – 226	R -> A. Reduces transcription activation.
Mutagenesis	246 – 246	R -> A. Reduces transcription activation.

Literature citations
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;

Disclaimer: 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.