UniProtKB/Swiss-Prot P01375: Variant p.Ala94Thr

Tumor necrosis factor
Gene: TNF
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Variant information Variant position:

94 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 Alanine (A) to Threonine (T) at position 94 (A94T, p.Ala94Thr). 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 small size and hydrophobic (A) to medium size and polar (T) 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
Polymorphism:

Genetic variations in TNF influence susceptibility to hepatitis B virus (HBV) infection [MIM:610424].Genetic variations in TNF are involved in susceptibility to malaria [MIM:611162]. - Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs1800620 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

AQAVRSSSRTPSDKPVAHVV A NPQAEGQLQWLNRRANALLA 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                         AQ--AVRSSSRTPSDKPVAHVVANPQAEGQLQWLNRRANALLA

                              AQ--TVKSSSRTPSDKPVAHVVANPEAEGQLQWLSRRANAL

Rhesus macaque                AQ--AVRSSSRTPSDKPVAHVVANPQAEGQLQWLNRRANAL

Chimpanzee                    AQ---AGSSSRTPSDKPVAHVVANPQAEGQLQWLNRRANAL

Mouse                         AQTLTLRSSSQNSSDKPVAHVVANHQVEEQLEWLSQRANAL

Rat                           AQTLTLRSSSQNSSDKPVAHVVANHQAEEQLEWLSQRANAL

Pig                           AQ--GLRSSSQT-SDKPVAHVVANVKAEGQLQWQSGYANAL

Bovine                        VQ--TLRSSSQASSNKPVAHVVADINSPGQLRWWDSYANAL

Rabbit                        AQMVTLRSASRALSDKPLAHVVANPQVEGQLQWLSQRANAL

Goat                          VQ--TLRSSSQASSNKPVAHVVANISAPGQLRWGDSYANAL

Sheep                         VQ--TLRSSSQASNNKPVAHVVANISAPGQLRWGDSYANAL

Cat                           PQ--TLRSSSRTPSDKPVAHVVANPEAEGQLQWLSRRANAL

Horse                         AQ--TLRSSSRTPSDKPVAHVVANPQAEGQLQWLSGRANAL

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 – 233	Tumor necrosis factor, membrane form
Chain	77 – 233	Tumor necrosis factor, soluble form
Topological domain	57 – 233	Extracellular
Domain	88 – 233	THD
Glycosylation	80 – 80	O-linked (GalNAc...) serine; in soluble form
Mutagenesis	105 – 105	L -> S. Low activity.
Mutagenesis	108 – 108	R -> W. Biologically inactive.
Mutagenesis	112 – 112	L -> F. Biologically inactive.
Beta strand	89 – 94

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.