UniProtKB/Swiss-Prot P18509: Variant p.Asp54Gly

Pituitary adenylate cyclase-activating polypeptide
Gene: ADCYAP1
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Variant information Variant position:

54 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 Aspartate (D) to Glycine (G) at position 54 (D54G, p.Asp54Gly). 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 medium size and acidic (D) to glycine (G) 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 rs2856966 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

PGIRPEEEAYGEDGNPLPDF D GSEPPGAGSPASAPRAAAAW 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                         PGIRPEEEAYGEDGNPLPDF-DGSEPPGAGSPASAPRAAAAW

Mouse                         PGIRPEDEAYDQDGNPLQDF-YDWDPPGVGSPASALRDAYA

Rat                           PGIRPEEEAYDQDGNPLQDF-YDWDPPGAGSPASALRDAYA

Pig                           PGIRPEDEAYDEDGNPLQDF-YDSDPPGVGGPASTLRDAYA

Bovine                        PGIRPENEVYDEDGNPQQDF-YDSESLGVGSPASALRDAYA

Sheep                         PGIRPENEAYDEDGNPQQDF-YDSEPPGVGSPASALRDAYA

Chicken                       PGAKLEEEVYDEDGNTLQDFALRAGAPGGGGPRPRWGRCTA

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
Propeptide	25 – 79
Region	39 – 68	Disordered

Literature citations
Primary structure and characterization of the precursor to human pituitary adenylate cyclase activating polypeptide.
Ohkubo S.; Kimura C.; Ogi K.; Okazaki K.; Hosoya M.; Onda H.; Miyata A.; Arimura A.; Fujino M.;
DNA Cell Biol. 11:21-30(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLY-54; Structure of the human pituitary adenylate cyclase activating polypeptide (PACAP) gene.
Hosoya M.; Kimura C.; Ogi K.; Ohkubo S.; Miyamoto Y.; Kugoh H.; Shimizu M.; Onda H.; Oshimura M.; Arimura A.; Fujino M.;
Biochim. Biophys. Acta 1129:199-206(1992)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLY-54; 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 GLY-54; Genetic variation screening and association studies of the adenylate cyclase activating polypeptide 1 (ADCYAP1) gene in patients with type 2 diabetes.
Gu H.F.;
Hum. Mutat. 19:572-573(2002)
Cited for: VARIANT GLY-54;

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