UniProtKB/Swiss-Prot P46695: Variant p.Ala127Pro

Radiation-inducible immediate-early gene IEX-1
Gene: IER3
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Variant information Variant position:

127 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 Alanine (A) to Proline (P) at position 127 (A127P, p.Ala127Pro). 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 small size and hydrophobic (A) to medium size and hydrophobic (P) 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 rs3094124 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

APLPPEDAPNAASLAPTPVS A VLEPFNLTSEPSDYALDLST 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                         APLPPEDAPNAASL----APTPVSAVLEPFNLTSEPSDYALDLST

Chimpanzee                    APLPPEDAPNAASL----APTPVSPVLEPFNLTSEPSDYAL

Mouse                         QPLAPEDATSAVTPEPISAPITAPPVLEPLNLTSESSDYAL

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 – 156	Radiation-inducible immediate-early gene IEX-1
Topological domain	100 – 156	Extracellular
Modified residue	123 – 123	Phosphothreonine; by MAPK1
Modified residue	126 – 126	Phosphoserine; by MAPK1
Glycosylation	133 – 133	N-linked (GlcNAc...) asparagine

Literature citations
Identification and characterization of a radiation-inducible glycosylated human early-response gene.
Kondratyev A.D.; Chung K.-N.; Jung M.O.;
Cancer Res. 56:1498-1502(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT PRO-127; PRG1: a novel early-response gene transcriptionally induced by pituitary adenylate cyclase activating polypeptide in a pancreatic carcinoma cell line.
Schaefer H.; Trauzold A.; Siegel E.G.; Folsch U.R.; Schmidt W.E.;
Cancer Res. 56:2641-2648(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT PRO-127; Identification and characterization of a novel monocyte/macrophage differentiation-dependent gene that is responsive to lipopolysaccharide, ceramide, and lysophosphatidylcholine.
Pietzsch A.; Buechler C.; Aslanidis C.; Schmitz G.;
Biochem. Biophys. Res. Commun. 235:4-9(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT PRO-127; Cloning of human full-length CDSs in BD Creator(TM) system donor vector.
Kalnine N.; Chen X.; Rolfs A.; Halleck A.; Hines L.; Eisenstein S.; Koundinya M.; Raphael J.; Moreira D.; Kelley T.; LaBaer J.; Lin Y.; Phelan M.; Farmer A.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT PRO-127; Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region.
Shiina S.; Tamiya G.; Oka A.; Inoko H.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT PRO-127; 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]; VARIANT PRO-127;

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.