UniProtKB/Swiss-Prot P23945: Variant p.Ala307Thr

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

307 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 Alanine (A) to Threonine (T) at position 307 (A307T, p.Ala307Thr). 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 hydrophobic (A) to medium size and polar (T) 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
Other resources:

Links to websites of interest for the variant.

Variant rs6165 [ dbSNP | Ensembl ]

Sequence information Variant position:

307 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:

ELHPICNKSILRQEVDYMTQ A RGQRSSLAEDNESSYSRGFD 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                         ELHPICNKSILRQEVDYMTQARGQRSSLAEDNESSYSRGFD

Mouse                         ELHPICNKSISRQDIDDMTQPGDQRVSLVDD-EPSYGKGSD

Rat                           ELHPICNKSILRQDIDDMTQIGDQRVSLIDD-EPSYGKGSD

Pig                           DLHPICNKSILRQEVDVMTQARGQRVSLAEDGESSLAKEFD

Bovine                        DLHPICNKSILRQEVDDMTQARGQRVSLAEDDEPSYAKGFD

Sheep                         DLHPICNKSILRQEVDDMTQARGQRISLAEDDEPSYAKGFD

Cat                           ELHPICNKSILRQEVDDMTQARGQRVSLAEDEESSYTKGFD

Horse                         ELQTTCNKSILRQEVD-MTQARGERVSLAEDDESSYPKGFD

Chicken                       EFYPICSMSPAKQDLGEQTGKRKHRRSAAEDYISHYGTRFG

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	18 – 366	Extracellular
Glycosylation	293 – 293	N-linked (GlcNAc...) asparagine
Glycosylation	318 – 318	N-linked (GlcNAc...) asparagine
Disulfide bond	275 – 346
Disulfide bond	276 – 356
Disulfide bond	292 – 338

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; 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; Molecular cloning of a truncated isoform of the human follicle stimulating hormone receptor.
Gromoll J.; Gudermann T.; Nieschlag E.;
Biochem. Biophys. Res. Commun. 188:1077-1083(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-342 (ISOFORM SHORT); VARIANT THR-307; Localization of the human FSH receptor to chromosome 2p21 using a genomic probe comprising exon 10.
Gromoll J.; Ried T.; Holtgreve-Grez H.; Nieschlag E.; Gudermann T.;
J. Mol. Endocrinol. 12:265-271(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 286-695; VARIANT THR-307; 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;

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.