UniProtKB/Swiss-Prot P02788 : Variant p.Ala29Thr
Lactotransferrin
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Variant information
Variant position:
29
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
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:
29 (A29T, p.Ala29Thr).
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:
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
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).following page
Polymorphism:
Additional information on the polymorphism described.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
29
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:
A VSQPEATKCFQWQRNMRKVR
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 LFLGALGLCLAGRRRSVQWCA VSQPEATKCFQWQRNMRKVR
Mouse IFLEALGLCLA-KATTVQWCA VSNSEEEKCLRWQNEMRKVG
Pig LFLGTLGLCLAAPKKGVRWCV ISTAEYSKCRQWQSKIRRTN
Bovine LSLGALGLCLAAPRKNVRWCT ISQPEWFKCRRWQWRMKKLG
Goat LSLGALGLCLAAPRKNVRWCA ISLPEWSKCYQWQRRMRKLG
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
20 – 29 Bactericidal and antifungal activity
Site
23 – 23 Interaction with PspA
Site
32 – 32 Interaction with PspA
Disulfide bond
28 – 64
Alternative sequence
1 – 44 Missing. In isoform DeltaLf.
Beta strand
24 – 31
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;
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.
