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UniProtKB/Swiss-Prot Q9BQ95 : Variant p.Arg278Cys
Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial
Gene: ECSIT
Variant information
Variant position: 278 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/BThe 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 Cysteine (C) at position 278 (R278C, p.Arg278Cys).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 medium size and polar (C)The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -3The 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.
Sequence information
Variant position: 278 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:
DPPQPHIVGIQSPDQQAALA
R HNPARPVFVEGPFSLWLRNK
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 DPPQPHIVGIQSPDQQAALAR HNPARPVFVEGPFSLWLRNK
Mouse DPTQPHIVGIQSPDQQAALAR HNPSRPVFVEGPFPLWLRNK
Rat DPTQPHIVGIQSPDQQAALAR HNPSRPVFVEGPFPLWLRNK
Bovine DPTETHIVGIQSPEQQSALAR HDPARPIFVEGPFSLWLRDK
Xenopus laevis EQEHLHIVGIQSPSQVSLLAA HDPSTPVYVEGPFPLWLKKT
Xenopus tropicalis EREHLHVVGIQSPSQVSLLAA HNPSTPVYVEGPFPLWLRKT
Zebrafish EITRPHIVGIQSPDQRSLLAK HNPCKPVFVEGPYPLWLRQK
Drosophila -IDDTWIVSGMSPEQEKLLRE HSRQKALYIEGPFHIWLRNR
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
Alternative sequence
266 – 296
GIQSPDQQAALARHNPARPVFVEGPFSLWLR -> ELTCCPRRRGKWKRRRRSGTSTTRCSWTWSM. In isoform 4.
Alternative sequence
267 – 296
IQSPDQQAALARHNPARPVFVEGPFSLWLR -> SGRDAGGVEPLLPDAAGPGVCEEWLGQLRV. In isoform 2.
Literature citations
Nucleotide sequence of the human ECSIT cDNA.
Fitzgerald S.N.; Brady K.J.; Moynagh P.N.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT CYS-278;
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.