UniProtKB/Swiss-Prot Q9BQ95: Variant p.Gly406Arg

Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial
Gene: ECSIT
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Variant information Variant position:

406 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 Glycine (G) to Arginine (R) at position 406 (G406R, p.Gly406Arg). 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 glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 rs2302971 [ dbSNP | Ensembl ]

Sequence information Variant position:

406 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

431 The length of the canonical sequence.
Location on the sequence:

QIPVVFRLAGSTRELQTSSA G LEEPPLPEDHQEEDDNLQRQ 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                         QIPVVFRLAGSTRELQTSSA---GLEEPPLPEDHQEEDDNLQRQ

Mouse                         QIPVVFRLARSTGELLTTSRLEGQSPPHSPPKGPEEDDETI

Rat                           QIPVVFRLARSTGELLATTRLEGQSPPHSPPKGPEEDDEAI

Bovine                        RIPVVFRLSGSSGELLPSSS-ELEEPPPPPPEGQEEEEDSQ

Xenopus laevis                QTPVVFRLNSGPQELSVPQE-KEAQPKQEVEE--EEREPER

Xenopus tropicalis            QTPVVFRLNSGPQELSVPQE-KEAEPKGELEDDEGEREPER

Zebrafish                     QIPTVFRLESGPRELQTSTD-DHQRPEQEAETDQIIEDDEE

Drosophila                    EVPVLFRFTS---EVPAKAEEIEGGASVPATSDNSSQDEHI

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	49 – 431	Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial
Region	400 – 431	Disordered
Alternative sequence	297 – 431	Missing. In isoform 2 and isoform 4.

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.