UniProtKB/Swiss-Prot P15391: Variant p.Arg514His

B-lymphocyte antigen CD19
Gene: CD19
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Variant information Variant position:

514 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 Histidine (H) at position 514 (R514H, p.Arg514His). 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 (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 rs34763945 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

SLGSQSYEDMRGILYAAPQL R SIRGQPGPNHEEDADSYENM 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                         SLGSQSYEDMRGILYAAPQLRSIRGQPGPNHEEDADSYENM

Mouse                         SLGSQSYEDMRGILYAAPQLHSI--QSGPSHEEDADSYENM

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	20 – 556	B-lymphocyte antigen CD19
Topological domain	314 – 556	Cytoplasmic
Region	513 – 556	Disordered
Modified residue	500 – 500	Phosphotyrosine
Modified residue	531 – 531	Phosphotyrosine
Alternative sequence	495 – 495	L -> LA. In isoform 2.
Mutagenesis	309 – 556	Missing. Abolishes the ability to activate signaling pathways that mediate mobilization of cytoplasmic Ca(2+). Abolishes the ability to restore normal B cell functions and responses to antigenic stimuli.
Mutagenesis	500 – 500	Y -> F. Strongly reduced tyrosine phosphorylation; when associated with F-531. Abolishes activation of signaling pathways that mediate mobilization of cytoplasmic Ca(2+); when associated with F-531. Abolishes the ability to complement impaired B cell development and functions; when associated with F-531.
Mutagenesis	531 – 531	Y -> F. Strongly reduced tyrosine phosphorylation; when associated with F-500. Abolishes activation of signaling pathways that mediate mobilization of cytoplasmic Ca(2+); when associated with F-500. Abolishes the ability to complement impaired B cell development and functions; when associated with F-500.

Literature citations
CD19, the earliest differentiation antigen of the B cell lineage, bears three extracellular immunoglobulin-like domains and an Epstein-Barr virus-related cytoplasmic tail.
Stamenkovic I.; Seed B.;
J. Exp. Med. 168:1205-1210(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS VAL-174 AND HIS-514; Isolation of cDNAs encoding the CD19 antigen of human and mouse B lymphocytes. A new member of the immunoglobulin superfamily.
Tedder T.F.; Isaacs C.M.;
J. Immunol. 143:712-717(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS VAL-174 AND HIS-514;

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.