UniProtKB/Swiss-Prot Q9BQ52: Variant p.Ser627Leu

Zinc phosphodiesterase ELAC protein 2
Gene: ELAC2
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Variant information Variant position:

627 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 Serine (S) to Leucine (L) at position 627 (S627L, p.Ser627Leu). 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 polar (S) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 rs78105154 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

AKCLQEGAEISSPAVERLIS S LLRTCDLEEFQTCLVRHCKH 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                         AK------------CLQEGAEISSPAVERLISSLLRTC--------DLEEFQTCLVRHCKH

Gorilla                       AK------------CLQEGAEISSPAVERLISSLLRTC---

Chimpanzee                    AK------------CLQEGAEISSPAVERLISSLLRTC---

Mouse                         AK------------CLQKGAEVSNTTLERLISLLLETC---

Rat                           AK------------CLQKGAEVPSPPVERLISLLLETC---

Caenorhabditis elegans        ISRYPLTPPGSPGGPPGKRPRLPSPHLPPSRDVLQDMSSSF

Fission yeast                 AKETVTT-------PLQLTSDLSISSVPSI-----------

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	17 – 826	Zinc phosphodiesterase ELAC protein 2
Modified residue	618 – 618	Phosphoserine
Alternative sequence	596 – 826	Missing. In isoform 2.

Literature citations
Ser217Leu polymorphism of the HPC2/ELAC2 gene associated with prostatic cancer risk in Japanese men.
Takahashi H.; Lu W.; Watanabe M.; Katoh T.; Furusato M.; Tsukino H.; Nakao H.; Sudo A.; Suzuki H.; Akakura K.; Ikemoto I.; Asano K.; Ito T.; Wakui S.; Muto T.; Hano H.;
Int. J. Cancer 107:224-228(2003)
Cited for: VARIANT LEU-627;

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.