UniProtKB/Swiss-Prot Q6WRI0: Variant p.Arg156Leu

Immunoglobulin superfamily member 10
Gene: IGSF10
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Variant information Variant position:

156 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 156 (R156L, p.Arg156Leu). 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:

Found in autosomal dominant self-limited delayed puberty; likely pathogenic; the mutant protein is not secreted. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs138756085 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

2623 The length of the canonical sequence.
Location on the sequence:

MDHNNIEFINPEVFYGLNFL R LVHLEGNQLTKLHPDTFVSL 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                         MDHNNIEFINPEVFYGLNFLRLVHLEGNQLTKLHPDTFVSL

Mouse                         LDHNNIEFINPEAFYGLTLLRLVHLEGNRLTKLHPDTFVSL

Rat                           LDHNNIEFINPEAFYGLTSLRLVHLEGNRLTKLHPDTFVSL

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	29 – 2623	Immunoglobulin superfamily member 10
Repeat	154 – 175	LRR 5
Alternative sequence	1 – 2021	Missing. In isoform 3.
Alternative sequence	1 – 1973	Missing. In isoform 2.

Literature citations
IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty.
Howard S.R.; Guasti L.; Ruiz-Babot G.; Mancini A.; David A.; Storr H.L.; Metherell L.A.; Sternberg M.J.; Cabrera C.P.; Warren H.R.; Barnes M.R.; Quinton R.; de Roux N.; Young J.; Guiochon-Mantel A.; Wehkalampi K.; Andre V.; Gothilf Y.; Cariboni A.; Dunkel L.;
EMBO Mol. Med. 8:626-642(2016)
Cited for: SUBCELLULAR LOCATION; PROBABLE INVOLVEMENT IN SELF-LIMITED DELAYED PUBERTY; VARIANTS LEU-156; LYS-161; GLY-2264 AND ASN-2614; CHARACTERIZATION OF VARIANTS LEU-156 AND LYS-161;

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.