UniProtKB/Swiss-Prot P51460: Variant p.Pro49Ser

Insulin-like 3
Gene: INSL3
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Variant information Variant position:

49 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Proline (P) to Serine (S) at position 49 (P49S, p.Pro49Ser). 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 medium size and hydrophobic (P) to small size and polar (S) 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
Variant description:

Found in a male with undermasculinised genitalia and intra-abdominal testes; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs751299877 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MREKLCGHHFVRALVRVCGG P RWSTEARRPATGGDRELLQW 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                         MREKLCGHHFVRALVRVC--GGPRWST-EARRPATGGDRELLQW

                              AREKLCGHHFVRALVRVC--GGPRWSS-EDGRRVAGGDREL

Chimpanzee                    MREKLCGHHFVRALVRVC--GGPRWST-EARRPAAGGDREW

Mouse                         ARAKLCGHHLVRTLVRVC--GGPRWSP-EATQPVETRDREL

Rat                           ARAKLCGHHLVRALVRVC--GGPRWSP-EATQPVDTRDREL

Pig                           APEKLCGHHFVRALVRLC--GGPRWSP-EDGRAVAGGDREL

Bovine                        APEKLCGHHFVRALVRLC--GGPRWSSEEDGRPVAGGDREL

Drosophila                    ATMKLCGRKLPETLSKLCVYG---FNA-MTKRTLDPVNFNQ

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
Peptide	21 – 55	Insulin-like 3 B chain
Disulfide bond	34 – 116	Interchain (between B and A chains)
Disulfide bond	46 – 129	Interchain (between B and A chains)
Turn	48 – 50

Literature citations
Genetic analysis of the INSL3 gene in patients with maldescent of the testis.
Lim H.N.; Raipert-de Meyts E.; Skakkebaek N.E.; Hawkins J.R.; Hughes I.A.;
Eur. J. Endocrinol. 144:129-137(2001)
Cited for: VARIANTS GLY-24; LEU-43; SER-49; ALA-60 AND HIS-102;

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.