UniProtKB/Swiss-Prot P29376: Variant p.Glu763Lys

Leukocyte tyrosine kinase receptor
Gene: LTK
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Variant information Variant position:

763 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 Glutamate (E) to Lysine (K) at position 763 (E763K, p.Glu763Lys). 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 acidic (E) to large size and basic (K) 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
Variant description:

May possibly contribute to susceptibility to systemic lupus erythematosus; increases autophosphorylation and interaction with PI3-kinase subunit p85. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs76282169 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

DPPRGCPGPVYRIMTQCWQH E PELRPSFASILERLQYCTQD 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                         DPPRGCPGPVYRIMTQCWQHEPELRPSFASILERLQYCTQD

Mouse                         DPPRNCPGPVYRIMTQCWQHQPELRPDFGSILERIQYCTQD

Zebrafish                     DPPKSCPGPVYRIMTQCWQHCPEHRPNFTTILERINYCTQD

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	17 – 864	Leukocyte tyrosine kinase receptor
Topological domain	450 – 864	Cytoplasmic
Domain	510 – 786	Protein kinase
Alternative sequence	171 – 864	Missing. In isoform Lambda P1.
Alternative sequence	449 – 864	Missing. In isoform Lambda P3.
Mutagenesis	750 – 750	G -> E. Increases autophosphorylation and interaction with PI3-kinase subunit p85 (demonstrated with chimeric EGFR-LTK).
Mutagenesis	753 – 753	Y -> F. Abolishes interaction with PI3-kinase subunit p85, impairs PI3 kinase activity and leads to apoptosis (demonstrated with chimeric EGFR-LTK).

Literature citations
Gain-of-function polymorphism in mouse and human Ltk: implications for the pathogenesis of systemic lupus erythematosus.
Li N.; Nakamura K.; Jiang Y.; Tsurui H.; Matsuoka S.; Abe M.; Ohtsuji M.; Nishimura H.; Kato K.; Kawai T.; Atsumi T.; Koike T.; Shirai T.; Ueno H.; Hirose S.;
Hum. Mol. Genet. 13:171-179(2004)
Cited for: POSSIBLE INVOLVEMENT IN SUSCEPTIBILITY TO SYSTEMIC LUPUS ERYTHEMATOSUS; VARIANT LYS-763; CHARACTERIZATION OF VARIANT LYS-763; AUTOPHOSPHORYLATION; MUTAGENESIS OF GLY-750;

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.