UniProtKB/Swiss-Prot P15502: Variant p.Gly422Ser

Elastin
Gene: ELN
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Variant information Variant position:

422 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 422 (G422S, p.Gly422Ser). 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 rs2071307 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

GGFPGFGVGVGGIPGVAGVP G VGGVPGVGGVPGVGISPEAQ 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                         GGFPGFGVGVGGIPGVAGVPGVGGVPGVGGVPGVGISPEAQ

Mouse                         GGFPGYGVGAGA--------------GLGGA-----S-PAA

Rat                           GGFPGYGVGAGA--------------GLGGA-----SQAAA

Bovine                        GGFPGIGDAAAA----------------------------P

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	27 – 786	Elastin
Modified residue	415 – 415	4-hydroxyproline; partial
Modified residue	421 – 421	Hydroxyproline; partial
Modified residue	427 – 427	4-hydroxyproline; partial

Literature citations
Alternative splicing of human elastin mRNA indicated by sequence analysis of cloned genomic and complementary DNA.
Indik Z.; Yeh H.; Ornstein-Goldstein N.; Sheppard P.; Anderson N.; Rosenbloom J.C.; Peltonen L.; Rosenbloom J.;
Proc. Natl. Acad. Sci. U.S.A. 84:5680-5684(1987)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 2; 3; 4 AND 6); VARIANT SER-422; Cloning of full-length elastin cDNAs from a human skin fibroblast recombinant cDNA library: further elucidation of alternative splicing utilizing exon-specific oligonucleotides.
Fazio M.J.; Olsen D.R.; Kauh E.A.; Baldwin C.T.; Indik Z.; Ornstein-Goldstein N.; Yeh H.; Rosenbloom J.; Uitto J.;
J. Invest. Dermatol. 91:458-464(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT SER-422; 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] (ISOFORMS 11 AND 12); VARIANT SER-422; 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] (ISOFORM 8); VARIANTS SER-422 AND ARG-610; Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.
Li D.Y.; Toland A.E.; Boak B.B.; Atkinson D.L.; Ensing G.J.; Morris C.A.; Keating M.T.;
Hum. Mol. Genet. 6:1021-1028(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 29-657 (ISOFORMS 9 AND 10); VARIANTS SER-422 AND ARG-610; Isolation and characterization of human elastin cDNAs, and age-associated variation in elastin gene expression in cultured skin fibroblasts.
Fazio M.J.; Olsen D.R.; Kuivaniemi H.; Chu M.L.; Davidson J.M.; Rosenbloom J.; Uitto J.;
Lab. Invest. 58:270-277(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 164-724 (ISOFORM 2); VARIANT SER-422; LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition.
Frangiskakis J.M.; Ewart A.K.; Morris C.A.; Mervis C.B.; Bertrand J.; Robinson B.F.; Klein B.P.; Ensing G.J.; Everett L.A.; Green E.D.; Proeschel C.; Gutowski N.J.; Noble M.; Atkinson D.L.; Odelberg S.J.; Keating M.T.;
Cell 86:59-69(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 659-786; VARIANT SER-422;

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