UniProtKB/Swiss-Prot P02788: Variant p.Lys47Arg

Lactotransferrin
Gene: LTF
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Variant information Variant position:

47 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 Lysine (K) to Arginine (R) at position 47 (K47R, p.Lys47Arg). 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:

Similar physico-chemical property. Both residues are large size and basic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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:

The sequence shown corresponds to the reference genome sequence and is likely to represent the minor allele, whereas most publications refer to the longer sequence containing variant Arg-22 ins. Insertion of the additional arginine in variant Arg-22 ins creates an N-terminal basic cluster of four arginines, all of which appear to be important for the full functionality of the protein, including bactericidal and antifungal activities as well as binding to glycosaminoglycans, pspA, LPS, lysozyme and DNA. Additional information on the polymorphism described.
Variant description:

Decreased antibacterial activity against Gram-positive bacteria; seems to reduce susceptibility to localized juvenile periodontitis; associated with increased plasma lactoferrin concentrations and possibly with susceptibility to coronary artery stenosis. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1126478 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

WCAVSQPEATKCFQWQRNMR K VRGPPVSCIKRDSPIQCIQA 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                         WCAVSQPEATKCFQWQRNMRKVRGPPVSCIKRDSPIQCIQA

Mouse                         WCAVSNSEEEKCLRWQNEMRKVGGPPLSCVKKSSTRQCIQA

Pig                           WCVISTAEYSKCRQWQSKIRRTN--PMFCIRRASPTDCIRA

Bovine                        WCTISQPEWFKCRRWQWRMKKLGAPSITCVRRAFALECIRA

Goat                          WCAISLPEWSKCYQWQRRMRKLGAPSITCIRRTSALECIRA

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	20 – 710	Lactotransferrin
Peptide	20 – 67	Lactoferricin-H
Domain	25 – 352	Transferrin-like 1
Region	39 – 49	Bactericidal and antifungal activity
Region	39 – 49	Interaction with lipopolysaccharide
Region	46 – 51	Involved in glycosaminoglycan binding
Site	32 – 32	Interaction with PspA
Disulfide bond	28 – 64
Disulfide bond	38 – 55
Helix	32 – 47

Literature citations
cDNA cloning and sequence analysis of human lactoferrin.
Cheng H.; Chen X.Z.; Huan L.D.;
Sheng Wu Gong Cheng Xue Bao 17:385-387(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ARG-22 INS; THR-29; ARG-47 AND ASP-579; Crystal structure of human seminal diferric lactoferrin at 3.4 Angstrom resolution.
Kumar J.; Weber W.; Munchau S.; Yadav S.; Singh S.B.; Saravanan K.; Paramasivam M.; Sharma S.; Kaur P.; Bhushan A.; Srinivasan A.; Betzel C.; Singh T.P.;
Indian J. Biochem. Biophys. 40:14-21(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); X-RAY CRYSTALLOGRAPHY (3.40 ANGSTROMS) OF 22-710 IN COMPLEX WITH IRON AND CARBONATE; FUNCTION; VARIANTS ARG-22 INS; THR-29; ARG-47 AND ASP-579; One of two human lactoferrin variants exhibits increased antibacterial and transcriptional activation activities and is associated with localized juvenile periodontitis.
Velliyagounder K.; Kaplan J.B.; Furgang D.; Legarda D.; Diamond G.; Parkin R.E.; Fine D.H.;
Infect. Immun. 71:6141-6147(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PROTEIN SEQUENCE OF 20-30; FUNCTION; VARIANTS ARG-22 INS; THR-29 AND ARG-47; Submission
Conneely O.M.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ARG-22 INS; THR-29 AND ARG-47; Submission
Shi Y.-Q.; Zhang Y.; Zheng Y.-M.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ARG-22 INS; THR-29; ARG-47 AND ASP-579; Mutations in ELA2 and LTF genes.
Allayous C.; Marianne-Pepin T.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ARG-22 INS; THR-29 AND ARG-47; Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene.
Klintworth G.K.; Sommer J.R.; Obrian G.; Han L.; Ahmed M.N.; Qumsiyeh M.B.; Lin P.-Y.; Basti S.; Reddy M.K.; Kanai A.; Hotta Y.; Sugar J.; Kumaramanickavel G.; Munier F.; Schorderet D.F.; El Matri L.; Iwata F.; Kaiser-Kupfer M.; Nagata M.; Nakayasu K.; Hejtmancik J.F.; Teng C.T.;
Mol. Vis. 4:31-32(1998)
Cited for: VARIANTS THR-29 AND ARG-47; Functional polymorphisms in the LTF gene and risk of coronary artery stenosis.
Videm V.; Dahl H.; Walberg L.E.; Wiseth R.;
Hum. Immunol. 73:554-559(2012)
Cited for: VARIANTS ARG-22 INS AND ARG-47;

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.