UniProtKB/Swiss-Prot Q8TDF6: Variant p.Ile18Thr

RAS guanyl-releasing protein 4
Gene: RASGRP4
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Variant information Variant position:

18 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 Isoleucine (I) to Threonine (T) at position 18 (I18T, p.Ile18Thr). 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 medium size and hydrophobic (I) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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 rs892055 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MNRKDSKRKSHQECTGK I GGRGRPRQVRRHKTCPSPRE 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                         MNRKDSKRKSHQECTGKIGGRGRPRQVRRHKTCPSPRE

Mouse                         MNRKDIKRKSHQECSGKAGGRGRSRQARRHKTCPTPRE

Rat                           MNRKDIKRKSHQECSGKAGGHGRPRQARRHKTCPTPRE

Bovine                        MNRKDSKRKSHQECPVKTGGRGRPRQARRHKTCPSPRE

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 – 673	RAS guanyl-releasing protein 4
Region	1 – 30	Disordered

Literature citations
RasGRP4, a new mast cell-restricted Ras guanine nucleotide-releasing protein with calcium- and diacylglycerol-binding motifs. Identification of defective variants of this signaling protein in asthma, mastocytosis, and mast cell leukemia patients and demonstration of the importance of RasGRP4 in mast cell development and function.
Yang Y.; Li L.; Wong G.W.; Krilis S.A.; Madhusudhan M.S.; Sali A.; Stevens R.L.;
J. Biol. Chem. 277:25756-25774(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3); FUNCTION; ACTIVITY REGULATION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; DEVELOPMENTAL STAGE; VARIANTS THR-18; LEU-120; ALA-145; CYS-261 AND GLY-335; RasGRP4 is a novel Ras activator isolated from acute myeloid leukemia.
Reuther G.W.; Lambert Q.T.; Rebhun J.F.; Caligiuri M.A.; Quilliam L.A.; Der C.J.;
J. Biol. Chem. 277:30508-30514(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; ACTIVITY REGULATION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANT THR-18; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANT THR-18;

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.