UniProtKB/Swiss-Prot P08727: Variant p.Ala60Gly

Keratin, type I cytoskeletal 19
Gene: KRT19
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Variant information Variant position:

60 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 Glycine (G) at position 60 (A60G, p.Ala60Gly). 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 glycine (G) 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 rs4602 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

SGGRGVSVSSARFVSSSSSG A YGGGYGGVLTASDGLLAGNE 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                         SGGRGVSVSSARFVSSSS-----SGAYGG--------G----YGGVLTASDGLLAGNE

Mouse                         SGGRGVSVSSTRFV-TSS-----SGSYGG--------VRGG

Rat                           SGGRGVSVSSTRIV-SSS-----SGGYVG--------GRGG

Bovine                        SGGRGVSVSSARFV-SSS-----SGGYGG--------G---

Chicken                       SGGRGVSVSSARFV-SSGLGSGLGGGYGGAFSSSFSAGFGG

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 – 400	Keratin, type I cytoskeletal 19
Region	1 – 79	Head
Modified residue	40 – 40	Phosphoserine
Modified residue	43 – 43	Omega-N-methylarginine
Modified residue	51 – 51	Omega-N-methylarginine
Modified residue	57 – 57	Phosphoserine
Modified residue	72 – 72	Phosphoserine

Literature citations
Sequence of cDNA coding for human keratin 19.
Stasiak P.C.; Lane E.B.;
Nucleic Acids Res. 15:10058-10058(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT GLY-60; Sequence of the human 40-kDa keratin reveals an unusual structure with very high sequence identity to the corresponding bovine keratin.
Eckert R.L.;
Proc. Natl. Acad. Sci. U.S.A. 85:1114-1118(1988)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLY-60; Keratin 19: predicted amino acid sequence and broad tissue distribution suggest it evolved from keratinocyte keratins.
Stasiak P.C.; Purkis P.E.; Leigh I.M.; Lane E.B.;
J. Invest. Dermatol. 92:707-716(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; DEVELOPMENTAL STAGE; VARIANT GLY-60; Genomic organization and amplification of the human keratin 15 and 19 genes.
Whittock N.V.; Eady R.A.J.; McGrath J.A.;
Biochem. Biophys. Res. Commun. 267:462-465(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLY-60; 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-60; 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 GLY-60; Initial characterization of the human central proteome.
Burkard T.R.; Planyavsky M.; Kaupe I.; Breitwieser F.P.; Buerckstuemmer T.; Bennett K.L.; Superti-Furga G.; Colinge J.;
BMC Syst. Biol. 5:17-17(2011)
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLY-60; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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