UniProtKB/Swiss-Prot O76074: Variant p.Ala93Val

cGMP-specific 3',5'-cyclic phosphodiesterase
Gene: PDE5A
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Variant information Variant position:

93 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 Valine (V) at position 93 (A93V, p.Ala93Val). 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 hydrophobic (V) 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 rs3733526 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

RGHTESCSCPLQQSPRADNS A PGTPTRKISASEFDRPLRPI 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                         RGHTESCSCPLQQSPRADNSAPGTPTRKISASEFDRPLRPI

                              RGHAESCSCSSQQSSRADSSAPGTPTRKISASEFDRPLRPI

Mouse                         RAHTESCSCSLQQSPHADNTTPGAPARKISASEFDRPLRPI

Rat                           RAHTESCSCSLPQSPHADNTTPGAPARKISASEFDRPLRPI

Bovine                        KGHTESCSCPLQPSPRAESSVPGTPTRKISASEFDRPLRPI

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	1 – 875	cGMP-specific 3',5'-cyclic phosphodiesterase
Region	78 – 102	Disordered
Compositional bias	78 – 99	Polar residues
Modified residue	102 – 102	Phosphoserine

Literature citations
Isolation and characterization of cDNAs encoding PDE5A, a human cGMP-binding, cGMP-specific 3',5'-cyclic nucleotide phosphodiesterase.
Loughney K.; Hill T.R.; Florio V.A.; Uher L.; Rosman G.J.; Wolda S.L.; Jones B.A.; Howard M.L.; McAllister-Lucas L.M.; Sonnenburg W.K.; Francis S.H.; Corbin J.D.; Beavo J.A.; Ferguson K.;
Gene 216:139-147(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS PDE5A1 AND PDE5A2); FUNCTION; CATALYTIC ACTIVITY; VARIANT VAL-93; Expression, structure and chromosomal localization of the human cGMP-binding cGMP-specific phosphodiesterase PDE5A gene.
Yanaka N.; Kotera J.; Ohtsuka A.; Akatsuka H.; Imai Y.; Michibata H.; Fujishige K.; Kawai E.; Takebayashi S.; Okumura K.; Omori K.;
Eur. J. Biochem. 255:391-399(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM PDE5A1); VARIANT VAL-93; Molecular cloning and expression of human cGMP-binding cGMP-specific phosphodiesterase.
Stacey P.; Rulten S.; Dapling A.; Phillips S.C.;
Biochem. Biophys. Res. Commun. 247:249-254(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM PDE5A1); VARIANT VAL-93; Molecular cloning and characterization of human cGMP-specific phosphodiesterase 5A2 cDNA.
Kotera J.; Imai Y.; Omori K.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM PDE5A2); VARIANT VAL-93; 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 PDE5A1); VARIANT VAL-93;

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.