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UniProtKB/Swiss-Prot P51460: Variant p.Thr60Ala

Insulin-like 3
Gene: INSL3
Variant information

Variant position:  60
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Threonine (T) to Alanine (A) at position 60 (T60A, p.Thr60Ala).
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 polar (T) to small size and hydrophobic (A)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  Common polymorphism.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  60
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:   RALVRVCGGPRWSTEARRPA  T GGDRELLQWLERRHLLHGLV
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                         RALVRVC--GGPRWSTE-ARRPATGGDRELLQWLERRHLLHGLV

                              RALVRVC--GGPRWSSE-DGRRVAGGDRELLQWLEGRHL-H

Chimpanzee                    RALVRVC--GGPRWSTE-ARRPAAGGDREWLQWLERRHLLH

Mouse                         RTLVRVC--GGPRWSPE-ATQPVETRDRELLQWLEQRHLLH

Rat                           RALVRVC--GGPRWSPE-ATQPVDTRDRELLQWLEQRHLLH

Pig                           RALVRLC--GGPRWSPE-DGRAVAGGDRELLQWLEGQHLFH

Bovine                        RALVRLC--GGPRWSSEEDGRPVAGGDRELLRWLEGQHLLH

Drosophila                    ETLSKLCVYG---FNAM-TKRTLDPVNFNQIDGFEDRSLLE

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.

TypePositionsDescription
Propeptide 58 – 104 C peptide like
Disulfide bond 34 – 116 Interchain (between B and A chains)
Disulfide bond 46 – 129 Interchain (between B and A chains)


Literature citations

A human cDNA coding for the Leydig insulin-like peptide (Ley I-L).
Burkhardt E.; Adham I.M.; Hobohm U.; Murphy D.; Sander C.; Engel W.;
Hum. Genet. 94:91-94(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ALA-60;

Structural organization of the porcine and human genes coding for a Leydig cell-specific insulin-like peptide (LEY I-L) and chromosomal localization of the human gene (INSL3).
Burkhardt E.; Adham I.M.; Brosig B.; Gastmann A.; Mattei M.-G.; Engel W.;
Genomics 20:13-19(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ALA-60;

Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT ALA-60;

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); VARIANT ALA-60;

Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism.
Krausz C.; Quintana-Murci L.; Fellous M.; Siffroi J.P.; McElreavey K.;
Mol. Hum. Reprod. 6:298-302(2000)
Cited for: VARIANT ALA-60;

Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism.
Tomboc M.; Lee P.A.; Mitwally M.F.; Schneck F.X.; Bellinger M.; Witchel S.F.;
J. Clin. Endocrinol. Metab. 85:4013-4018(2000)
Cited for: VARIANT CRYPTO LEU-93; VARIANT ALA-60;

A common polymorphism in the human relaxin-like factor (RLF) gene: no relationship with cryptorchidism.
Koskimies P.; Virtanen H.; Lindstroem M.; Kaleva M.; Poutanen M.; Huhtaniemi I.; Toppari J.;
Pediatr. Res. 47:538-541(2000)
Cited for: VARIANT ALA-60;

Novel insulin-like 3 (INSL3) gene mutation associated with human cryptorchidism.
Marin P.; Ferlin A.; Moro E.; Rossi A.; Bartoloni L.; Rossato M.; Foresta C.;
Am. J. Med. Genet. 103:348-349(2001)
Cited for: VARIANT CRYPTO CYS-102; VARIANT ALA-60;

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;

Different insulin-like 3 (INSL3) gene mutations not associated with human cryptorchidism.
Marin P.; Ferlin A.; Moro E.; Garolla A.; Foresta C.;
J. Endocrinol. Invest. 24:RC13-RC15(2001)
Cited for: VARIANT ALA-60;

Ala/Thr60 variant of the Leydig insulin-like hormone is not associated with cryptorchidism in the Japanese population.
Takahashi I.; Takahashi T.; Komatsu M.; Matsuda J.; Takada G.;
Pediatr. Int. 43:256-258(2001)
Cited for: VARIANT ALA-60;

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.