UniProtKB/Swiss-Prot P23945: Variant p.Ser680Asn

Follicle-stimulating hormone receptor
Gene: FSHR
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Variant information Variant position:

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

LB/B 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 Serine (S) to Asparagine (N) at position 680 (S680N, p.Ser680Asn). 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 small size and polar (S) to medium size and polar (N) 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
Other resources:

Links to websites of interest for the variant.

Variant rs6166 [ dbSNP | Ensembl ]

Sequence information Variant position:

680 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:

STVHNTHPRNGHCSSAPRVT S GSTYILVPLSHLAQN 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                         STVHNTHPRNGHCSSAPRVTSGSTYILVPLSHLAQN

Mouse                         SITHNFHSRKNPCSSAPRVTNS--YVLVPLNHSVQN

Rat                           SATHNFHARKSHCSSAPRVTNS--YVLVPLNHSSQN

Pig                           STAHNIHPRNGHCPPAPRITNSSSYTLIPLSRLAQN

Bovine                        STAHNFHPRNGHCPPAPRVTNGSNYTLIPLRHLAKN

Sheep                         FTAHNFHPRNGHCPPAPRVTNGSNYTLIPLRHLAKN

Cat                           STAHNFHPRNGHCPPAPRVTNSSNYILIPLRHLAKN

Horse                         STAHISHPRNGHCPPTPRVINGANCTLVPLSHLAQN

Chicken                       SSAHNFHTRNGHYPTASKNSDGTIYSLVPLNHLN--

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
Chain	18 – 695	Follicle-stimulating hormone receptor
Topological domain	631 – 695	Cytoplasmic

Literature citations
Expression of recombinant human follicle-stimulating hormone receptor: species-specific ligand binding, signal transduction, and identification of multiple ovarian messenger ribonucleic acid transcripts.
Tilly J.L.; Aihara T.; Nishimori K.; Jia X.-C.; Billig H.; Kowalski K.I.; Perlas E.A.; Hsueh A.J.;
Endocrinology 131:799-806(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG); VARIANTS THR-307 AND ASN-680; The cloning of the human follicle stimulating hormone receptor and its expression in COS-7, CHO, and Y-1 cells.
Kelton C.A.; Cheng S.V.; Nugent N.P.; Schweickhardt R.L.; Rosenthal J.L.; Overton S.A.; Wands G.D.; Kuzeja J.B.; Luchette C.A.; Chappel S.C.;
Mol. Cell. Endocrinol. 89:141-151(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG); VARIANTS THR-307 AND ASN-680; FSHR expression in adipose tissue.
Liu X.; Huang H.; Sheng J.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG); VARIANT ASN-680; cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org).
Kopatz S.A.; Aronstam R.S.; Sharma S.V.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG); VARIANTS THR-307 AND ASN-680; 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 LONG); VARIANTS THR-307 AND ASN-680; 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] (ISOFORMS LONG AND 3); VARIANTS THR-307 AND ASN-680; Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS THR-307; ARG-524 AND ASN-680; Distribution and function of FSH receptor genetic variants in normal men.
Asatiani K.; Gromoll J.; Eckardstein S.V.; Zitzmann M.; Nieschlag E.; Simoni M.;
Andrologia 34:172-176(2002)
Cited for: VARIANTS THR-307 AND ASN-680;

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