UniProtKB/Swiss-Prot P26378: Variant p.Pro275Ser

ELAV-like protein 4
Gene: ELAVL4
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Variant information Variant position:

275 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 Proline (P) to Serine (S) at position 275 (P275S, p.Pro275Ser). 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 (P) to small size and polar (S) 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 rs2494876 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LNMAYGVKRLMSGPVPPSAC P PRFSPITIDGMTSLVGMNIP 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                         LNMAYGVKRLMSGPVPPSACPPRFSPITIDGMTSLVGMNIP

Mouse                         LNMAYGVKRLMSGPVPPSACPPRFSPITIDGMTSLVGMNIP

Rat                           LNMAYGVKRLMSGPVPPSACPPRFSPITIDGMTSLVGMNIP

Xenopus laevis                LNMAYGVK--------------RFSPITIDGMTSLVGMNIP

Xenopus tropicalis            LNMAYGVK--------------RFSPITIDGMTSLVGMNIP

Zebrafish                     LNMAYGVK--------------RFSPITIDSMTSLVGMNIP

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 – 385	ELAV-like protein 4
Alternative sequence	264 – 277	Missing. In isoform 2, isoform 3, isoform 4 and isoform 5.

Literature citations
HuD, a paraneoplastic encephalomyelitis antigen, contains RNA-binding domains and is homologous to Elav and Sex-lethal.
Szabo A.; Dalmau J.; Manley G.; Rosenfeld M.; Wong E.; Henson J.; Posner J.B.; Furneaux H.M.;
Cell 67:325-333(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); TISSUE SPECIFICITY; VARIANT SER-275; Novel products of the HuD, HuC, NNP-1 and alpha-internexin genes identified by autologous antibody screening of a pediatric neuroblastoma library.
Behrends U.; Jandl T.; Golbeck A.; Lechner B.; Mueller-Weihrich S.; Schmid I.; Till H.; Berthold F.; Voltz R.; Mautner J.M.;
Int. J. Cancer 100:669-677(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4); VARIANT SER-275; Paraneoplastic encephalomyelitis antigens bind to the AU-rich elements of mRNA.
Liu J.; Dalmau J.; Szabo A.; Rosenfeld M.; Huber J.; Furneaux H.;
Neurology 45:544-550(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 245-284 (ISOFORM 1); FUNCTION; ALTERNATIVE SPLICING; VARIANT SER-275;

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.