UniProtKB/Swiss-Prot P12724: Variant p.Thr124Arg

Eosinophil cationic protein
Gene: RNASE3
Feedback?

Variant information Variant position:

124 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 Threonine (T) to Arginine (R) at position 124 (T124R, p.Thr124Arg). 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 (T) to large size and basic (R) 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 rs2073342 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

RVPLLHCDLINPGAQNISNC T YADRPGRRFYVVACDNRDPR 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                         RVPLLHCDLINPGAQNISNCTYADRPGRRFYVVACDNRDPR

Gorilla                       RVPLLHCDLINPGAQNISNCRYADRPGRRFYVVACDNRDPQ

Chimpanzee                    RVPLLHCDLINPGAQNISNCRYADRPGRRFYVVACDNRDPR

Rat                           RVSITFCNLTTP-ARIYTQCRYQTTRSRKFYTVGCDPRTPR

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	28 – 160	Eosinophil cationic protein
Glycosylation	119 – 119	N-linked (GlcNAc...) asparagine
Disulfide bond	82 – 138

Literature citations
Human eosinophil cationic protein. Molecular cloning of a cytotoxin and helminthotoxin with ribonuclease activity.
Rosenberg H.F.; Ackerman S.J.; Tenen D.G.;
J. Exp. Med. 170:163-176(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ARG-124; Structure and chromosome localization of the human eosinophil-derived neurotoxin and eosinophil cationic protein genes: evidence for intronless coding sequences in the ribonuclease gene superfamily.
Hamann K.J.; Ten R.M.; Loegering D.A.; Jenkins R.B.; Heise M.T.; Schad C.R.; Pease L.R.; Gleich G.J.; Barker R.L.;
Genomics 7:535-546(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ARG-124; Eosinophil cationic protein cDNA. Comparison with other toxic cationic proteins and ribonucleases.
Barker R.L.; Loegering D.A.; Ten R.M.; Hamann K.J.; Pease L.R.; Gleich G.J.;
J. Immunol. 143:952-955(1989)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ARG-124; Submission
Simonsen C.C.; Kennedy J.; Comstock L.; Ashton N.; McGrogan M.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ARG-124; Sequence variation at two eosinophil-associated ribonuclease loci in humans.
Zhang J.; Rosenberg H.F.;
Genetics 156:1949-1958(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ARG-124; 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 ARG-124; Identification of polymorphisms in the ECP gene. Relation to disease activity in Hodgkins lymphoma.
Bystrom J.; Molin D.; Jonsson U.B.; Enblad G.; Sundstrom C.; Hogbom E.; Venge P.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 20-160; VARIANTS CYS-72 AND ARG-124;

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.