UniProtKB/Swiss-Prot P02786: Variant p.Gly142Ser

Transferrin receptor protein 1
Gene: TFRC
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Variant information Variant position:

142 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 Glycine (G) to Serine (S) at position 142 (G142S, p.Gly142Ser). 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 glycine (G) to small size and polar (S) 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 rs3817672 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LYWDDLKRKLSEKLDSTDFT G TIKLLNENSYVPREAGSQKD 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                         LYWDDLKRKLSEKLDSTDFTGTIKL-LNENSYVPREAGSQKD

                              LFWTDLKTMLSERLSNTDFTNTMRW-LNENSYVPREAGSQK

Mouse                         LYWADLKTLLSEKLNSIEFADTIKQ-LSQNTYTPREAGSQK

Rat                           LFWADLKTLLSEKLNSIEFTDIIKQ-LSQNTYTPREAGSQK

Pig                           LFWADLKILLSKGLDTTDFTRTIKM-LNED-YAPREAGSQK

Cat                           LFWSDLKTMLSEKLSNTEFTSTIRQ-LNENSYFPREAGSQK

Horse                         LLWTDLRTMLSERLTATEFTNTIKR-LNGNSYVPREAGSQK

Chicken                       IFWPELKAMLSKKLSAKNLVDNLRWRVGVDSF---EAGEAE

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 – 760	Transferrin receptor protein 1
Chain	101 – 760	Transferrin receptor protein 1, serum form
Topological domain	89 – 760	Extracellular
Helix	141 – 146

Literature citations
Primary structure of human transferrin receptor deduced from the mRNA sequence.
Schneider C.; Owen M.J.; Banville D.; Williams J.G.;
Nature 311:675-678(1984)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT SER-142; The human transferrin receptor gene: genomic organization, and the complete primary structure of the receptor deduced from a cDNA sequence.
McClelland A.; Kuhn L.C.; Ruddle F.H.;
Cell 39:267-274(1984)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT SER-142; Identification of 96 single nucleotide polymorphisms in eight genes involved in iron metabolism: efficiency of bioinformatic extraction compared with a systematic sequencing approach.
Douabin-Gicquel V.; Soriano N.; Ferran H.; Wojcik F.; Palierne E.; Tamim S.; Jovelin T.; McKie A.T.; Le Gall J.-Y.; David V.; Mosser J.;
Hum. Genet. 109:393-401(2001)
Cited for: VARIANT SER-142;

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.