Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01225: Variant p.Cys69Gly

Follitropin subunit beta
Gene: FSHB
Feedback?
Variant information Variant position: help 69 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Cysteine (C) to Glycine (G) at position 69 (C69G, p.Cys69Gly). 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: help Change from medium size and polar (C) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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: help In HH24. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 69 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 129 The length of the canonical sequence.
Location on the sequence: help YCYTRDLVYKDPARPKIQKT C TFKELVYETVRVPGCAHHAD 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         YCYTRDLVYKDPARPKIQKTCTFKELVYETVRVPGCAHHAD

Gorilla                       YCYTRDLVYKDPARPNIQKTCTFKELVYETVRVPGCAHHAD

Chimpanzee                    HCYTRDLVYKDPARPNIQKTCTFKELVYETVRVPGCAHHAD

Mouse                         YCYTRDLVYKDPARPNTQKVCTFKELVYETVRLPGCARHSD

Rat                           YCYTRDLVYKDPARPNTQKVCTFKELVYETIRLPGCARHSD

Pig                           YCYTRDLVYKDPARPNIQKTCTFKELVYETVKVPGCAHHAD

Bovine                        YCYTRDLVYRDPARPNIQKTCTFKELVYETVKVPGCAHHAD

Rabbit                        YCYTRDLVYKDPARPNIQKICTFKELVYETVRVPGCAHHAD

Goat                          YCYTRDLVYKDPARPNIQKACTFKELVYETVKVPGCARHAD

Sheep                         YCYTRDLVYKDPARPNIQKACTFKELVYETVKVPGCAHHAD

Horse                         YCYTRDLVYKDPARPNIQKTCTFKELVYETVKVPGCAHHAD
Sequence annotation in neighborhood: help 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
Chain 19 – 129 Follitropin subunit beta
Disulfide bond 21 – 69
Disulfide bond 35 – 84
Disulfide bond 38 – 122
Disulfide bond 46 – 100
Disulfide bond 50 – 102
Mutagenesis 78 – 78 T -> E. Increased activation of the follicle-stimulating hormone signaling pathway.
Beta strand 68 – 81



Literature citations
Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene.
Layman L.C.; Lee E.-J.; Peak D.B.; Namnoum A.B.; Vu K.V.; van Lingen B.L.; Gray M.R.; McDonough P.G.; Reindollar R.H.; Jameson J.L.;
N. Engl. J. Med. 337:607-611(1997)
Cited for: VARIANT HH24 GLY-69;
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.