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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P23945: Variant p.Pro348Arg

Follicle-stimulating hormone receptor
Gene: FSHR
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Variant information Variant position: help 348 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 Proline (P) to Arginine (R) at position 348 (P348R, p.Pro348Arg). 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 hydrophobic (P) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In ODG1. Any additional useful information about the variant.


Sequence information Variant position: help 348 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 695 The length of the canonical sequence.
Location on the sequence: help MTYTEFDYDLCNEVVDVTCS P KPDAFNPCEDIMGYNILRVL 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                         MTYTEFDYDLCNEVVDVTCSPKPDAFNPCEDIMGYNILRVL

Mouse                         MLYSEFDYDLCNEFVDVTCSPKPDAFNPCEDIMGYNILRVL

Rat                           MMYNEFDYDLCNEVVDVTCSPKPDAFNPCEDIMGYNILRVL

Pig                           TMYSEFDYDLCNEVVDVICSPEPDTFNPCEDIMGHDILRVL

Bovine                        VMYSEFDYDLCNEVVDVTCSPEPDAFNPCEDIMGDDILRVL

Sheep                         MMYSEFDYDLCSEVVDVTCSPEPDAFNPCEDIMGYDILRVL

Cat                           MMYSEFDYDLCNEVVDVTCSPKPDAFNPCEDIMGYDILRVL

Horse                         MMYSEFEYDLCNEVVDVTCSPKPDAFNPCEDIMGYDILRVL

Chicken                       PVENEFDYGLCNEVVDFVCSPKPDAFNPCEDIMGYNVLRVL
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 18 – 695 Follicle-stimulating hormone receptor
Topological domain 18 – 366 Extracellular
Modified residue 335 – 335 Sulfotyrosine
Disulfide bond 276 – 356
Mutagenesis 330 – 330 Y -> F. No change in intracellular cAMP accumulation.
Mutagenesis 335 – 335 Y -> F. Reduces intracellular cAMP accumulation.
Beta strand 345 – 348



Literature citations
A novel loss of function mutation in exon 10 of the FSH receptor gene causing hypergonadotrophic hypogonadism: clinical and molecular characteristics.
Allen L.A.; Achermann J.C.; Pakarinen P.; Kotlar T.J.; Huhtaniemi I.T.; Jameson J.L.; Cheetham T.D.; Ball S.G.;
Hum. Reprod. 18:251-256(2003)
Cited for: VARIANT ODG1 ARG-348;
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.