UniProtKB/Swiss-Prot Q92766: Variant p.Leu1467Pro

Ras-responsive element-binding protein 1
Gene: RREB1
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Variant information Variant position:

1467 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 Leucine (L) to Proline (P) at position 1467 (L1467P, p.Leu1467Pro). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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 rs2256596 [ dbSNP | Ensembl ]

Sequence information Variant position:

1467 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1687 The length of the canonical sequence.
Location on the sequence:

ETPAEVVESAPGAGEAPAEK L AEETEGPSDGESAAEKRSSE 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                         ETPAEVVESAPGAGEAPAEKLAEETEGPSDGESAAEKRSSE

Mouse                         ESLA--IDPTPGTREASVAKQNEETEGPTDGEGTAEKR---

Chicken                       DLK---VVESPLDCEAT-GKENEESESISEGEGT-ERKSTE

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 – 1687	Ras-responsive element-binding protein 1
Region	1409 – 1513	Disordered
Compositional bias	1465 – 1513	Basic and acidic residues
Modified residue	1475 – 1475	Phosphoserine
Alternative sequence	315 – 1687	Missing. In isoform 6.
Alternative sequence	1270 – 1535	Missing. In isoform 5.
Alternative sequence	1270 – 1534	DSQSDAETAAAAGEVLDLTSRDREQPSEGATELRQVAGDAPVEQATAETASPVHREEHGRGESHEPEEEHGTEESTGDADGAEEDASSNQSLDLDFATKLMDFKLAEGDGEAGAGGAASQEQKLACDTCGKSFKFLGTLSRHRKAHGRQEPKDEKGDGASTAEEGPQPAPEQEEKPPETPAEVVESAPGAGEAPAEKLAEETEGPSDGESAAEKRSSEKSDDDKKPKTDSPKSVASKADKRKKVCSVCNKRFWSLQDLTRHMRSH -> GQKPFPCQKCDAFFSTKSNCERHQLRKHGVTTCSLRRNGLIPQSKESDVGSHDS. In isoform 3.

Literature citations
Finb, a multiple zinc finger protein, represses transcription of the human angiotensinogen gene.
Date S.; Nibu Y.; Yanai K.; Hirata J.; Yagami K.; Fukamizu A.;
Int. J. Mol. Med. 13:637-642(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3); VARIANTS ARG-195; VAL-783 AND PRO-1467; SUBCELLULAR LOCATION; FUNCTION; 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] (ISOFORM 4); NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-324 (ISOFORM 1); VARIANTS ARG-195 AND PRO-1467; A human Raf-responsive zinc-finger protein that binds to divergent sequences.
Zhang L.; Zhao J.; Edenberg H.J.;
Nucleic Acids Res. 27:2947-2956(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1161-1687 (ISOFORM 1); NUCLEOTIDE SEQUENCE [MRNA] OF 1161-1633 (ISOFORM 2); VARIANT PRO-1467; FUNCTION;

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.