UniProtKB/Swiss-Prot P02788: Variant p.Ile148Thr

Lactotransferrin
Gene: LTF
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Variant information Variant position:

148 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 Isoleucine (I) to Threonine (T) at position 148 (I148T, p.Ile148Thr). 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 hydrophobic (I) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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.
Other resources:

Links to websites of interest for the variant.

Variant rs1126479 [ dbSNP | Ensembl ]

Sequence information Variant position:

148 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:

LQGLKSCHTGLRRTAGWNVP I GTLRPFLNWTGPPEPIEAAV 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                         LQGLKSCHTGLRRTAGWNVPIGTLRPFLNWTGPPEPIEAAV

Mouse                         LQGLRSCHTGIGRSAGWKIPIGTLRPYLNWNGPPASLEEAV

Pig                           LQGRKSCHTGLGRSAGWNIPIGLLRRFLDWAGPPEPLQKAV

Bovine                        LQGRKSCHTGLGRSAGWIIPMGILRPYLSWTESLEPLQGAV

Goat                          LQGQKSCHMGLGRSAGWNIPVGILRPFLSWTESAEPLQGAV

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
Domain	25 – 352	Transferrin-like 1
Binding site	136 – 136
Binding site	140 – 140
Binding site	142 – 142
Binding site	143 – 143
Glycosylation	156 – 156	N-linked (GlcNAc...) asparagine
Disulfide bond	134 – 217
Mutagenesis	140 – 140	R -> DES. Disrupts anion binding site and destabilizes iron binding.
Helix	145 – 151

Literature citations
Complete nucleotide sequence of human mammary gland lactoferrin.
Rey M.W.; Woloshuk S.L.; de Boer H.A.; Pieper F.R.;
Nucleic Acids Res. 18:5288-5288(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ARG-22 INS; THR-148 AND CYS-422;

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.