UniProtKB/Swiss-Prot P12104: Variant p.Thr55Ala

Fatty acid-binding protein, intestinal
Gene: FABP2
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Variant information Variant position:

55 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 Threonine (T) to Alanine (A) at position 55 (T55A, p.Thr55Ala). 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 (T) to small size and hydrophobic (A) 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
Variant description:

May have a lower affinity for long-chain fatty acids, such as oleate and arachidonate, compared to T-55. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1799883 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

DNLKLTITQEGNKFTVKESS T FRNIEVVFELGVTFNYNLAD 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                         DNLKLTITQEGNKFTVKESSTFRNIEVVFELGVTFNYNLAD

Mouse                         DNLKLTITQDGNKFTVKESSNFRNIDVVFELGVNFPYSLAD

Rat                           DNLKLTITQEGNKFTVKESSNFRNIDVVFELGVDFAYSLAD

Pig                           DNLKLIITQEGNKFTVKESSTFRNIEIVFELGVTFNYSLAD

Bovine                        DNLKLIITQEGNKFTVKESSTFRSIEIIFELGVTFNYSLAD

Xenopus laevis                DNLKVIIQQDGNNFTVKESSTFRNIEIKFTLAQPFEYSLAD

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	2 – 132	Fatty acid-binding protein, intestinal
Mutagenesis	39 – 39	L -> G. Reduced stability.
Mutagenesis	64 – 64	E -> G. Localized reduction in stability.
Mutagenesis	65 – 65	L -> A. Reduced stability.
Mutagenesis	65 – 65	L -> G. Reduced stability.
Mutagenesis	67 – 67	V -> G. Localized reduction in stability.

Literature citations
The human and rodent intestinal fatty acid binding protein genes. A comparative analysis of their structure, expression, and linkage relationships.
Sweetser D.A.; Birkenmeier E.H.; Klisak I.J.; Zollman S.; Sparkes R.S.; Mohandas T.; Lusis A.J.; Gordon J.I.;
J. Biol. Chem. 262:16060-16071(1987)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ALA-55; Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
Hillier L.W.; Graves T.A.; Fulton R.S.; Fulton L.A.; Pepin K.H.; Minx P.; Wagner-McPherson C.; Layman D.; Wylie K.; Sekhon M.; Becker M.C.; Fewell G.A.; Delehaunty K.D.; Miner T.L.; Nash W.E.; Kremitzki C.; Oddy L.; Du H.; Sun H.; Bradshaw-Cordum H.; Ali J.; Carter J.; Cordes M.; Harris A.; Isak A.; van Brunt A.; Nguyen C.; Du F.; Courtney L.; Kalicki J.; Ozersky P.; Abbott S.; Armstrong J.; Belter E.A.; Caruso L.; Cedroni M.; Cotton M.; Davidson T.; Desai A.; Elliott G.; Erb T.; Fronick C.; Gaige T.; Haakenson W.; Haglund K.; Holmes A.; Harkins R.; Kim K.; Kruchowski S.S.; Strong C.M.; Grewal N.; Goyea E.; Hou S.; Levy A.; Martinka S.; Mead K.; McLellan M.D.; Meyer R.; Randall-Maher J.; Tomlinson C.; Dauphin-Kohlberg S.; Kozlowicz-Reilly A.; Shah N.; Swearengen-Shahid S.; Snider J.; Strong J.T.; Thompson J.; Yoakum M.; Leonard S.; Pearman C.; Trani L.; Radionenko M.; Waligorski J.E.; Wang C.; Rock S.M.; Tin-Wollam A.-M.; Maupin R.; Latreille P.; Wendl M.C.; Yang S.-P.; Pohl C.; Wallis J.W.; Spieth J.; Bieri T.A.; Berkowicz N.; Nelson J.O.; Osborne J.; Ding L.; Meyer R.; Sabo A.; Shotland Y.; Sinha P.; Wohldmann P.E.; Cook L.L.; Hickenbotham M.T.; Eldred J.; Williams D.; Jones T.A.; She X.; Ciccarelli F.D.; Izaurralde E.; Taylor J.; Schmutz J.; Myers R.M.; Cox D.R.; Huang X.; McPherson J.D.; Mardis E.R.; Clifton S.W.; Warren W.C.; Chinwalla A.T.; Eddy S.R.; Marra M.A.; Ovcharenko I.; Furey T.S.; Miller W.; Eichler E.E.; Bork P.; Suyama M.; Torrents D.; Waterston R.H.; Wilson R.K.;
Nature 434:724-731(2005)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT ALA-55; 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]; VARIANT ALA-55; An amino acid substitution in the human intestinal fatty acid binding protein is associated with increased fatty acid binding, increased fat oxidation, and insulin resistance.
Baier L.J.; Sacchettini J.C.; Knowler W.C.; Eads J.; Paolisso G.; Tataranni P.A.; Mochizuki H.; Bennett P.H.; Bogardus C.; Prochazka M.;
J. Clin. Invest. 95:1281-1287(1995)
Cited for: CHARACTERIZATION OF VARIANT ALA-55; The association of Ala54Thr variant of intestinal fatty acid binding protein gene with general and regional adipose tissue depots.
Kunsan X.; Taisan Z.; Weiping J.; Duoqi S.; Wei D.; Jie L.; Junxi L.; Rong Z.;
Chin. Med. Sci. J. 14:46-51(1999)
Cited for: IDENTIFICATION OF VARIANT ALA-55;

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.