UniProtKB/Swiss-Prot O95391: Variant p.Ile111Val

Pre-mRNA-splicing factor SLU7
Gene: SLU7
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Variant information Variant position:

111 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 Isoleucine (I) to Valine (V) at position 111 (I111V, p.Ile111Val). 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 rs17856338 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

KQKQFSSSGEWYKRGVKENS I ITKYRKGACENCGAMTHKKK 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                         KQKQFSSS---GEWYKRGVKENSIITKYRKGACENCGAMTHKKK

Mouse                         KQKQFSSS---GEWYKRGVKENSITTKYRKGACENCGAMTH

Rat                           KQKQFSSS---GEWYKRGVKENSITTKYRKGACENCGAMTH

Bovine                        KQKQYSSS---GEWYKRGVKENSITTKYRKGACENCGAMTH

Chicken                       KQKQYSSS---GDWYKRGVKEHSIATRYRKGACENCGALTH

Xenopus laevis                KQKYFSQM---DEWYKKGVKEGSITTKYRQGACENCGSLTH

Zebrafish                     NQSKFAPI---GDWYKRGVQEKSVNTKYRKGACENCGALTH

Caenorhabditis elegans        REKKMTQI---HEWYQKGTTGKS-ATKFRKGACENCGAMGH

Drosophila                    DEQ--GQL---DKRAPKGLNTARIITKFRKGACENCGAVTH

Slime mold                    KEMDKG-------WYLRGATTGEAATKFRKGACENCGAMTH

Baker's yeast                 PKIGMGIK---DEFKLIRPQKMSVRDSHSLSFCRNCGEAGH

Fission yeast                 ETPSGGRSSIEGSWYVRGKKLGPAATKYRKGACENCGAMSH

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	2 – 586	Pre-mRNA-splicing factor SLU7
Mutagenesis	116 – 116	R -> N. Abolishes nuclear localization.
Mutagenesis	117 – 117	K -> N. Abolishes nuclear localization.
Mutagenesis	120 – 120	C -> S. Induces a cytoplasmic localization; when associated with S-123; G-128 and S-133.
Mutagenesis	123 – 123	C -> S. Induces a cytoplasmic localization; when associated with S-120; G-128 and S-133.
Mutagenesis	128 – 128	H -> G. Induces a cytoplasmic localization; when associated with S-120; S-123 and S-133.
Mutagenesis	129 – 129	K -> N. Abolishes nuclear localization.

Literature citations
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]; VARIANTS VAL-111 AND THR-229;

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.