UniProtKB/Swiss-Prot O60393: Variant p.Arg44Leu

Homeobox protein NOBOX
Gene: NOBOX
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Variant information Variant position:

44 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 Leucine (L) at position 44 (R44L, p.Arg44Leu). 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 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
Variant description:

No effect on transactivation activity; not statistically significant decrease of nuclear location. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs115206969 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

FKAQEGPPLAVPEFPVCGLY R IYGVCGSFSSFFIIRCSLCA 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                         FKAQEGPPLAVPEFPVCGLYRIYGVCGSFSSFFIIRCSLCA

Mouse                         --------------------------------------LC-

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 – 691	Homeobox protein NOBOX

Literature citations
New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression.
Bouilly J.; Roucher-Boulez F.; Gompel A.; Bry-Gauillard H.; Azibi K.; Beldjord C.; Dode C.; Bouligand J.; Mantel A.G.; Hecart A.C.; Delemer B.; Young J.; Binart N.;
J. Clin. Endocrinol. Metab. 100:994-1001(2015)
Cited for: VARIANTS POF5 TRP-91; ARG-111; TRP-117 AND THR-371; CHARACTERIZATION OF VARIANTS POF5 TRP-91; ARG-111; TRP-117 AND THR-371; FUNCTION; DNA-BINDING; VARIANTS LEU-44 AND LEU-619; CHARACTERIZATION OF VARIANTS LEU-44 AND LEU-619; Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency.
Ferrari I.; Bouilly J.; Beau I.; Guizzardi F.; Ferlin A.; Pollazzon M.; Salerno M.; Binart N.; Persani L.; Rossetti R.;
Hum. Mol. Genet. 25:5223-5233(2016)
Cited for: VARIANT LEU-44; CHARACTERIZATION OF VARIANT LEU-44; VARIANTS POF5 TRP-91; ARG-111; ARG-152; 449-ARG--PRO-691 DEL AND ASN-452; CHARACTERIZATION OF VARIANTS POF5 TRP-91; ARG-111; ARG-152; 449-ARG--PRO-691 DEL AND ASN-452; FUNCTION; SUBCELLULAR LOCATION;

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.