UniProtKB/Swiss-Prot Q14246: Variant p.Asn254Ser

Adhesion G protein-coupled receptor E1
Gene: ADGRE1
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Variant information Variant position:

254 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 Asparagine (N) to Serine (S) at position 254 (N254S, p.Asn254Ser). 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 polar (N) 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 rs443658 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

TCTNTPGSYFCTCHPGFAPS N GQLNFTDQGVECRDIDECRQ 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                         TCTNTPGSYFCTCHPGFAPSNGQLNFTDQGVECRDIDECRQ

Mouse                         SCTNTIGSYFCTCHPGFASSNGQLNFKDLEVTCEDIDECTQ

Rat                           SCTNTLGSYFCTCHPGFASSNGQLNFTDQEVTCEDIDECTQ

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	21 – 886	Adhesion G protein-coupled receptor E1
Topological domain	21 – 599	Extracellular
Domain	221 – 267	EGF-like 5; calcium-binding
Glycosylation	258 – 258	N-linked (GlcNAc...) asparagine
Disulfide bond	246 – 266
Alternative sequence	140 – 316	Missing. In isoform 4.

Literature citations
EMR1, an unusual member in the family of hormone receptors with seven transmembrane segments.
Baud V.; Chissoe S.L.; Viegas-Pequignot E.; Diriong S.; N'Guyen V.C.; Roe B.A.; Lipinski M.;
Genomics 26:334-344(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS THR-57; ARG-140; ASN-174; SER-254; VAL-298; MET-389; VAL-424; GLN-496; VAL-539 AND THR-663;

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.