Variant position: 348 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 695 The length of the canonical sequence.
Location on the sequence:
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 MTYTEFDYDLCNEVVDVTCS PKPDAFNPCEDIMGYNILRVL
Mouse MLYSEFDYDLCNEFVDVTCS PKPDAFNPCEDIMGYNILRVL
Rat MMYNEFDYDLCNEVVDVTCS PKPDAFNPCEDIMGYNILRVL
Pig TMYSEFDYDLCNEVVDVICS PEPDTFNPCEDIMGHDILRVL
Bovine VMYSEFDYDLCNEVVDVTCS PEPDAFNPCEDIMGDDILRVL
Sheep MMYSEFDYDLCSEVVDVTCS PEPDAFNPCEDIMGYDILRVL
Cat MMYSEFDYDLCNEVVDVTCS PKPDAFNPCEDIMGYDILRVL
Horse MMYSEFEYDLCNEVVDVTCS PKPDAFNPCEDIMGYDILRVL
Chicken PVENEFDYGLCNEVVDFVCS PKPDAFNPCEDIMGYNVLRVL
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
18 – 695 Follicle-stimulating hormone receptor
18 – 366 Extracellular
335 – 335 Sulfotyrosine
276 – 356
330 – 330 Y -> F. No change in intracellular cAMP accumulation.
335 – 335 Y -> F. Reduces intracellular cAMP accumulation.
345 – 348
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;
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.