UniProtKB/Swiss-Prot Q9BVP2: Variant p.Arg39Gln

Guanine nucleotide-binding protein-like 3
Gene: GNL3
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Variant information Variant position:

39 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 Arginine (R) to Glutamine (Q) at position 39 (R39Q, p.Arg39Gln). 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 large size and basic (R) to medium size and polar (Q) 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 rs11177 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

YKIQKKVREHHRKLRKEAKK R GHKKPRKDPGVPNSAPFKEA 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                         YKIQKKVREHHRKLRKEAKKRGH--KKPRKDPGVPNSAPFKEA

Mouse                         YKIQKKVREHHRKLRKEAKKRGH--KKPRKDPGVPNSAPFK

Rat                           YKIQKKVREHHRKLRKEAKKRGH--KKPKKDPGVPNSAPFK

Xenopus laevis                YKIQKKVREHKRKVKKEAKKSGP--RKHKKDITVPNAAPFK

Xenopus tropicalis            YKIQKKVREHNRKARKEAKKSGT--RKQKKEISVPNNAPFK

Zebrafish                     YKIQKKVREHNRKLKKAAKKQGIS-RKAKKDIGVPNSAPFK

Caenorhabditis elegans        YKIEKKVRDHNRKVKKEAKKNGTT-NKKEKTISVPNSCPFK

Drosophila                    HKIEKKVRDHNKKERRAAKKNPKKGSKKQKLIQIPNICPFK

Slime mold                    HKVLKKVAEHHRKVKRFAKQHPEL-NKSRKDPGIPNLWPFK

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 – 549	Guanine nucleotide-binding protein-like 3
Region	1 – 56	Disordered
Region	2 – 46	Basic
Compositional bias	1 – 45	Basic residues

Literature citations
Effects of estrogen on global gene expression: identification of novel targets of estrogen action.
Charpentier A.H.; Bednarek A.K.; Daniel R.L.; Hawkins K.A.; Laflin K.J.; Gaddis S.; MacLeod M.C.; Aldaz C.M.;
Cancer Res. 60:5977-5983(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS GLN-39 AND MET-367; Cloning of the nucleostemin gene and its function in transforming human embryonic bone marrow mesenchymal stem cells into F6 tumor cells.
Han C.; Zhang X.; Xu W.; Wang W.; Qian H.; Chen Y.;
Int. J. Mol. Med. 16:205-213(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; TISSUE SPECIFICITY; VARIANTS GLN-39 AND MET-367; 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 1); VARIANTS GLN-39 AND MET-367;

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.