UniProtKB/Swiss-Prot Q9UPY3: Variant p.Pro435Leu

Endoribonuclease Dicer
Gene: DICER1
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Variant information Variant position:

435 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Leucine (L) at position 435 (P435L, p.Pro435Leu). 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
Variant description:

Found in Wilms tumor from a patient with GLOW syndrome; uncertain significance; somatic mutation. Any additional useful information about the variant.

Sequence information Variant position:

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

1922 The length of the canonical sequence.
Location on the sequence:

SEDDDEDEEIEEKEKPETNF P SPFTNILCGIIFVERRYTAV 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                         SE-DDDEDEEIEEKEKPETNFPSPFTNILCGIIFVERRYTAV

Mouse                         SE-DDDDDEEIEEKEKPETNFPSPFTNILCGIIFVERRYTA

Bovine                        SE-DDEEDEEIEEKEKPETNFPSPFTNILCGIIFVERRYTA

Chicken                       SE-DDDEDEEIEEKEKPETNFPSPFTNILCGIIFVERRYTA

Xenopus tropicalis            SEDDDDEDEEIEEKEKTETSFPSPFTNILCGIIFVERRYTA

Zebrafish                     SE-DDDEDEEAEAKEKTEANFPSPFTNILCGIIFVERRYTA

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 – 1922	Endoribonuclease Dicer
Domain	433 – 602	Helicase C-terminal
Region	256 – 595	Required for interaction with PRKRA and TARBP2
Modified residue	415 – 415	Phosphoserine
Alternative sequence	14 – 1115	Missing. In isoform 3.

Literature citations
Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.
Klein S.; Lee H.; Ghahremani S.; Kempert P.; Ischander M.; Teitell M.A.; Nelson S.F.; Martinez-Agosto J.A.;
J. Med. Genet. 51:294-302(2014)
Cited for: VARIANTS LEU-435 AND GLY-1898; VARIANTS GLOW TYR-1709 AND VAL-1713; INVOLVEMENT IN GLOW;

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.