UniProtKB/Swiss-Prot P14061: Variant p.Gly313Ser

17-beta-hydroxysteroid dehydrogenase type 1
Gene: HSD17B1
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Variant information Variant position:

313 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 Glycine (G) to Serine (S) at position 313 (G313S, p.Gly313Ser). 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 glycine (G) to small size and polar (S) 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 rs605059 [ dbSNP | Ensembl ]

Sequence information Variant position:

313 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

328 The length of the canonical sequence.
Location on the sequence:

EAGAEAGGGAGPGAEDEAGR G AVGDPELGDPPAAPQ 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                         EAGAEAGGGAGPGAEDEAGRGAVGDPELGDPPAAPQ--------------------

Chimpanzee                    EAGAEAGGGAGPGAEDEAGPSAVGDPELGDPPAAPQ

Mouse                         QENAKAGAQV-PGVSDTASSALICLPECAIPRVASE

Rat                           QEGAKAGAQV-SGDPDTPPRALICLPECAIPRVTAE

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	2 – 328	17-beta-hydroxysteroid dehydrogenase type 1
Region	291 – 328	Disordered

Literature citations
Complete amino acid sequence of human placental 17 beta-hydroxysteroid dehydrogenase deduced from cDNA.
Peltoketo H.; Isomaa V.; Maeentausta O.; Vihko R.;
FEBS Lett. 239:73-77(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT SER-313; Characterization of cDNAs for human estradiol 17 beta-dehydrogenase and assignment of the gene to chromosome 17: evidence of two mRNA species with distinct 5'-termini in human placenta.
Luu-The V.; Labrie C.; Zhao H.F.; Couet J.; Lachance Y.; Simard J.; Leblanc G.; Labrie F.;
Mol. Endocrinol. 3:1301-1309(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT SER-313; Structure of two in tandem human 17 beta-hydroxysteroid dehydrogenase genes.
Luu-The V.; Labrie C.; Simard J.; Lachance Y.; Zhao H.F.; Couet J.; Leblanc G.; Labrie F.;
Mol. Endocrinol. 4:268-275(1990)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT SER-313; Purification, cloning, complementary DNA structure, and predicted amino acid sequence of human estradiol 17 beta-dehydrogenase.
Luu-The V.; Labrie C.; Zhao H.F.; Couet J.; Lachance Y.; Simard J.; Cote J.; Leblanc G.; Lagace L.; Berube D.; Gagne R.; Labrie F.;
Ann. N. Y. Acad. Sci. 595:40-52(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT SER-313; Genomic organization and DNA sequences of human 17 beta-hydroxysteroid dehydrogenase genes and flanking regions. Localization of multiple Alu sequences and putative cis-acting elements.
Peltoketo H.E.; Isomma V.; Vihko R.;
Eur. J. Biochem. 209:459-466(1992)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT SER-313; Submission
Shen Y.; Gibbs R.A.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT SER-313; 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]; VARIANT SER-313; Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT SER-313; 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]; VARIANT SER-313; Detection of polymorphisms in the estradiol 17 beta-hydroxysteroid dehydrogenase II gene at the EDH17B2 locus on 17q11-q21.
Normand T.; Narod S.; Labrie F.; Simard J.;
Hum. Mol. Genet. 2:479-483(1993)
Cited for: VARIANTS VAL-238 AND SER-313;

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.