UniProtKB/Swiss-Prot P02774: Variant p.His445Arg

Vitamin D-binding protein
Gene: GC
Feedback?

Variant information Variant position:

445 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 Histidine (H) to Arginine (R) at position 445 (H445R, p.His445Arg). 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 polar (H) to large size and basic (R) 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
Polymorphism:

Over 80 variants of human DBP have been identified. The three most common alleles are called GC*1F, GC*1S, and GC*2. The sequence shown is that of the GC*1A1 allele. Additional information on the polymorphism described.
Variant description:

In allele GC*1F, allele GC*2 and allele GC*1S. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs9016 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

RLKAKLPDATPTELAKLVNK H SDFASNCCSINSPPLYCDSE 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                         RLKAKLPDATPTELAKLVNKHSDFASNCCSINSPPLYCDSE

Mouse                         RLRTKTPNTSPAELKDMVEKHSDFASKCCSINSPPLYCSSQ

Rat                           RLRTKMPNASPEELADMVAKHSDFASKCCSINSPPRYCSSQ

Bovine                        RLRGKFPDATETDLQELVAKRSDFASKCCSVNSPPLYCNSE

Rabbit                        QLRAKLPEATSAELAELVEKHSDFASKCCSINSPPNYCDSE

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	17 – 474	Vitamin D-binding protein
Domain	395 – 474	Albumin 3
Disulfide bond	407 – 453
Helix	435 – 452

Literature citations
Serum vitamin D-binding protein is a third member of the albumin and alpha fetoprotein gene family.
Cooke N.E.; David E.V.;
J. Clin. Invest. 76:2420-2424(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; VARIANTS GLU-432 AND ARG-445; Human group-specific component (Gc) is a member of the albumin family.
Yang F.; Brune J.L.; Naylor S.L.; Cupples R.L.; Naberhaus K.H.; Bowman B.H.;
Proc. Natl. Acad. Sci. U.S.A. 82:7994-7998(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS LYS-436 AND ARG-445; Sequence and organization of the human vitamin D-binding protein gene.
Braun A.; Kofler A.; Morawietz S.; Cleve H.;
Biochim. Biophys. Acta 1216:385-394(1993)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLU-432 AND ARG-445; Complete structure of the human Gc gene: differences and similarities between members of the albumin gene family.
Witke W.F.; Gibbs P.E.; Zielinski R.; Yang F.; Bowman B.H.; Dugaiczyk A.;
Genomics 16:751-754(1993)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLU-432 AND ARG-445; 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 1 AND 3); NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-47 (ISOFORM 2); VARIANTS GLU-432; LYS-436 AND ARG-445; Submission
Totoki Y.; Toyoda A.; Takeda T.; Sakaki Y.; Tanaka A.; Yokoyama S.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS GLU-432 AND ARG-445; 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]; VARIANTS GLU-432 AND ARG-445; 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 1); VARIANT ARG-445; The glycosylation and characterization of the candidate Gc macrophage activating factor.
Ravnsborg T.; Olsen D.T.; Thysen A.H.; Christiansen M.; Houen G.; Hoejrup P.;
Biochim. Biophys. Acta 1804:909-917(2010)
Cited for: PROTEIN SEQUENCE OF 409-446 (ALLELE GC*1S); VARIANTS GLU-432 AND ARG-445; TISSUE SPECIFICITY; GLYCOSYLATION (ALLELE GC*1S); Molecular analysis of the gene for the human vitamin-D-binding protein (group-specific component): allelic differences of the common genetic GC types.
Braun A.; Bichlmaier R.; Cleve H.;
Hum. Genet. 89:401-406(1992)
Cited for: VARIANTS GLU-432; LYS-436 AND ARG-445;

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.